Post on 21-Dec-2015
Diseases of the Skin Diseases of the Skin AppendagesAppendages
Adam Wray, D.O.Adam Wray, D.O.
September 13, 2005September 13, 2005
Alopecia areataAlopecia areata Characterized by rapid and complete loss of Characterized by rapid and complete loss of
hair in one or more often several round or oval hair in one or more often several round or oval patchespatches
““Exclamation point” hairs that are tapered at Exclamation point” hairs that are tapered at the base may persist in localized patchesthe base may persist in localized patches
Usually on the scalp, bearded areas, eyebrows Usually on the scalp, bearded areas, eyebrows and eyelashesand eyelashes
1-5 cm 1-5 cm May progress to total loss of scalp hair – May progress to total loss of scalp hair –
alopecia totalis, or hair loss involving the alopecia totalis, or hair loss involving the entire body – alopecia universalisentire body – alopecia universalis
Alopecia AreataAlopecia Areata
Lifetime risk 1.7%Lifetime risk 1.7% Associated with thyroid disease, Associated with thyroid disease,
vitiligo, inflammatory bowel diseasevitiligo, inflammatory bowel disease AA may be protective against the AA may be protective against the
development of diabetesdevelopment of diabetes• Frequency of type I diabetes is Frequency of type I diabetes is
increased in relatives of patients with increased in relatives of patients with alopecia areataalopecia areata
AA HistoAA Histo
Lymphocytes surround lower portion Lymphocytes surround lower portion of follicle in early lesions = “swarm of follicle in early lesions = “swarm of bees”of bees”
Increased numbers of miniature Increased numbers of miniature telogen and catagen follicles or telogen and catagen follicles or sometimes early anagen hair follicles sometimes early anagen hair follicles in the superficial dermisin the superficial dermis
Telogen effluviumTelogen effluvium
Early and excessive loss of normal club Early and excessive loss of normal club hairs from normal resting follicles in the hairs from normal resting follicles in the scalpscalp
Loss results from traumatization of the Loss results from traumatization of the normal hair by some stimulus, such as normal hair by some stimulus, such as surgery, parturition, fever, drugs, or surgery, parturition, fever, drugs, or traction which precipitates the anagen traction which precipitates the anagen phase into catagen and telogen phasesphase into catagen and telogen phases
Associated with Fe deficiency and Associated with Fe deficiency and thyroid diseasethyroid disease
Follicle is not diseased and Follicle is not diseased and inflammation is absentinflammation is absent
Telogen effluviumTelogen effluvium
““lots of hairs coming out by the roots”lots of hairs coming out by the roots” Loss is diffuse and only infrequently Loss is diffuse and only infrequently
causes clinically perceptible thinning of causes clinically perceptible thinning of hairhair
Normal telogen count is below 10%Normal telogen count is below 10% Can be estimated by the pull testCan be estimated by the pull test Grasping 40 hairs firmly between thumb Grasping 40 hairs firmly between thumb
and forefinger, followed by a slow pulland forefinger, followed by a slow pull Greater than 4-6 club hairs is abnormalGreater than 4-6 club hairs is abnormal
A Telogen fibers A Telogen fibers showing a club shapeshowing a club shape
B Anagen fibers with B Anagen fibers with attached inner root attached inner root sheath, demonstrating sheath, demonstrating pigmented, distorted pigmented, distorted bulbs appearing like bulbs appearing like the end of a the end of a broomstickbroomstick
Telogen effluviumTelogen effluvium
100 – 200 hairs lost daily100 – 200 hairs lost daily 200 – 400 lost in telogen effluvium200 – 400 lost in telogen effluvium
TXTX
No specific therapyNo specific therapy In the majority of cases it will stop In the majority of cases it will stop
spontaneously within a few months spontaneously within a few months and the hair will regrowand the hair will regrow
Chronic form may occurChronic form may occur 5% minoxidil solution5% minoxidil solution educationeducation
Anagen effluviumAnagen effluvium Seen frequently following the Seen frequently following the
administration of cancer administration of cancer chemotherapeutic agents, such as chemotherapeutic agents, such as antimetabolites, alkylating agents, and antimetabolites, alkylating agents, and mitotic inhibitorsmitotic inhibitors
Only anagen hairs are involvedOnly anagen hairs are involved With cessation of the drug the follicle With cessation of the drug the follicle
resumes normal activity within a few resumes normal activity within a few weeksweeks
Process entirely reversibleProcess entirely reversible Topical minoxidil may decrease the Topical minoxidil may decrease the
period of baldness by an average of 50 period of baldness by an average of 50 daysdays
Androgenetic alopeciaAndrogenetic alopeciamale-pattern baldnessmale-pattern baldness
Most prevalent type of hair loss in Most prevalent type of hair loss in humanshumans
Can be inherited from either or both Can be inherited from either or both parentsparents
Starts during the 20s to early 30s by Starts during the 20s to early 30s by gradual loss of hair, chiefly from the gradual loss of hair, chiefly from the vertex and frontotemporal regionsvertex and frontotemporal regions
Several patternsSeveral patterns Rate variesRate varies
Pathogenesis of AGAPathogenesis of AGA Related to dihydrotestosterone (DHT)Related to dihydrotestosterone (DHT) Testosterone converted to DHT by 5alpha Testosterone converted to DHT by 5alpha
– reductase– reductase• Two isoenzymes, type I and type IITwo isoenzymes, type I and type II• Type I 5alpha – reductase predominantly found Type I 5alpha – reductase predominantly found
in sebaceous glands and the liver as well as in sebaceous glands and the liver as well as scalp hair folliclesscalp hair follicles
• Type II 5alpha – reductase is present in scalp Type II 5alpha – reductase is present in scalp hair follicles, beard, and chest hair, liver, and hair follicles, beard, and chest hair, liver, and prostateprostate
Genetic absence of type II 5alpha – Genetic absence of type II 5alpha – reductase is protective from the reductase is protective from the development of male AGAdevelopment of male AGA
AGA TXAGA TX MinoxidilMinoxidil
• 2% and 5%2% and 5%• Indefinite treatment to maintain a responseIndefinite treatment to maintain a response• 1/3 cases grow cosmetically useful hair1/3 cases grow cosmetically useful hair
FinasterideFinasteride• Effective in preventing further hair loss Effective in preventing further hair loss
(90% of men) and in increasing the hair (90% of men) and in increasing the hair counts (65% of men)counts (65% of men)
Hair transplantationHair transplantation
Androgenetic alopecia in Androgenetic alopecia in womenwomen
Generally diffuse hair loss throughout Generally diffuse hair loss throughout the midscalp, sparing the frontal the midscalp, sparing the frontal hairline except for slight recessionhairline except for slight recession
The midline part is an important clinical The midline part is an important clinical clue to the diagnosis, revealing this clue to the diagnosis, revealing this central thinning by the appearance of central thinning by the appearance of the “Christmas tree pattern”the “Christmas tree pattern”
The cause is now believed to be a The cause is now believed to be a genetic predisposition in combination genetic predisposition in combination with an excessive androgen response with an excessive androgen response
TXTX
Topical minoxidil 2%Topical minoxidil 2% Spironolactone or finasteride if Spironolactone or finasteride if
associated with hyperandrogenemiaassociated with hyperandrogenemia
TrichotillomaniaTrichotillomania
A neurotic practice of plucking or breaking A neurotic practice of plucking or breaking hair from the scalp, eyelashes, eyebrows, hair from the scalp, eyelashes, eyebrows, extremities, or pubic regionextremities, or pubic region
Usually localized but may be widespreadUsually localized but may be widespread Areas of alopecia characteristically contain Areas of alopecia characteristically contain
hairs of various lengthshairs of various lengths Seen mostly in girls under 10 and Seen mostly in girls under 10 and womenwomen, ,
may also be seen in boys and adultsmay also be seen in boys and adults
TrichotillomaniaTrichotillomania
It has been suggested that one ask the It has been suggested that one ask the child not if but rather how the removal is child not if but rather how the removal is donedone
Shave 3 X 3 cm area and watch the hair Shave 3 X 3 cm area and watch the hair regrow normally. Hairs in this “skin regrow normally. Hairs in this “skin window” will be too short for pluckingwindow” will be too short for plucking
Biopsy – high number of catagen hairs, Biopsy – high number of catagen hairs, pigmentary defects and casts, pigmentary defects and casts, trichomalacia and hemorrhage, follicular trichomalacia and hemorrhage, follicular pluggingplugging
TrichotillomaniaTrichotillomania May be a May be a
manifestation of manifestation of obsessive-obsessive-compulsive disordercompulsive disorder
May be assoc with May be assoc with depression or depression or anxietyanxiety
TX – psychotherapy, TX – psychotherapy, behavioral therapy behavioral therapy or an appropriate or an appropriate psychopharmacologipsychopharmacologic medicationc medication
fluoxetinefluoxetine
Traction alopeciaTraction alopecia
Occurs from prolonged tension on Occurs from prolonged tension on the hairthe hair
Either from the hair tightly braided or Either from the hair tightly braided or in a ponytailin a ponytail
Hot comb alopeciaHot comb alopecia
Develops characteristically on the crown Develops characteristically on the crown and spreads peripherally to form a large and spreads peripherally to form a large oval area of partial hair lossoval area of partial hair loss
Initially reported in black women who Initially reported in black women who straightened their hair with hot combsstraightened their hair with hot combs
The hot petrolatum used with the iron The hot petrolatum used with the iron causes thermal damage to the hair folliclecauses thermal damage to the hair follicle
Histo same as for trichotillomania and Histo same as for trichotillomania and traction alopecia (follicular degeneration traction alopecia (follicular degeneration syndromesyndrome
Follicular degeneration syndromeFollicular degeneration syndrome
Pigmented casts in Pigmented casts in folliclefollicle
Empty folliclesEmpty follicles Perifollicular Perifollicular
lymphocytes, plasma lymphocytes, plasma cells, or neutrophils cells, or neutrophils usually sparse or usually sparse or absentabsent
Perifollicular Perifollicular hemorrhage hemorrhage sometimessometimes
Perifollicular fibrosis if Perifollicular fibrosis if follicle is destroyedfollicle is destroyed
Alopecia syphiliticaAlopecia syphilitica
May have a typical moth-eaten May have a typical moth-eaten appearance on the occipital scalp, a appearance on the occipital scalp, a generalized thinning, or a generalized thinning, or a combination of the twocombination of the two
Eyebrows and lashes, and other body Eyebrows and lashes, and other body hair may be involvedhair may be involved
May be the first sign of a syphilis May be the first sign of a syphilis infectioninfection
Tumor alopeciaTumor alopecia
Refers to hair loss in the Refers to hair loss in the immediate vicinity of either benign immediate vicinity of either benign or malignant tumors of the scalpor malignant tumors of the scalp
Syringomas, nerve sheath Syringomas, nerve sheath myxomas, and steatocytoma myxomas, and steatocytoma multiplexmultiplex
Alopecia neoplastica – hair loss Alopecia neoplastica – hair loss from metastatic tumors, most from metastatic tumors, most commonly breast carcinomacommonly breast carcinoma
Pseudopelade of BrocqPseudopelade of Brocq Non-inflammatory, intermittently progressive Non-inflammatory, intermittently progressive
scarring alopeciascarring alopecia Unknown origin Unknown origin Lesions typically start on the crown and spread in Lesions typically start on the crown and spread in
a “pseudopod-like” fashion at irregular intervalsa “pseudopod-like” fashion at irregular intervals Clinically, pale depressed areas called “footprints Clinically, pale depressed areas called “footprints
in the snow”in the snow” Histo: development of elastic fibers around the Histo: development of elastic fibers around the
lower part of the follicle and less perifollicular lower part of the follicle and less perifollicular inflammationinflammation
Tx: difficult; surgery best optionTx: difficult; surgery best option
Follicular mucinosisFollicular mucinosis(alopecia mucinosa)(alopecia mucinosa)
Most commonly occurs on the scalp or Most commonly occurs on the scalp or beard areabeard area
Cicatricial alopecia occurs when enough Cicatricial alopecia occurs when enough mucin is deposited in the follicular outer mucin is deposited in the follicular outer root sheath and sebaceous gland to root sheath and sebaceous gland to cause extensive follicular disruptioncause extensive follicular disruption• Otherwise alopecia may be reversibleOtherwise alopecia may be reversible
Primary cases occur either as localized Primary cases occur either as localized lesions of the head or neck typically lesions of the head or neck typically resloving within a yearresloving within a year
Follicular mucinosisFollicular mucinosis(alopecia mucinosa)(alopecia mucinosa)
More generalized lesion have a More generalized lesion have a longer courselonger course
Young people are primarily affectedYoung people are primarily affected A secondary type – associated with A secondary type – associated with
cutaneous T-cell lymphoma, usually cutaneous T-cell lymphoma, usually more widespread and in older more widespread and in older personspersons
Inflammatory alopeciaInflammatory alopecia
May be seen in lichen simplex May be seen in lichen simplex chronicus and various eczematous chronicus and various eczematous changes on the scalp, including changes on the scalp, including kerionkerion
DLE, lichen planopilaris, sarcoidosis, DLE, lichen planopilaris, sarcoidosis, and folliculitis decalvans are the and folliculitis decalvans are the commonest inflammatory causes of commonest inflammatory causes of cicatricial alopeciacicatricial alopecia
HAIR STRUCTURE DEFECTSHAIR STRUCTURE DEFECTS
Increased fragilityIncreased fragility
• TrichothiodystrophyTrichothiodystrophy• Pili tortiPili torti• MonilethrixMonilethrix• Trichorrhexis Trichorrhexis
nodosanodosa• Trichorrhexis Trichorrhexis
invaginatainvaginata
No increased No increased fragilityfragility
Loose anagen hair Loose anagen hair syndromesyndrome
Uncombable hairUncombable hair Woolly hairWoolly hair Pili multigeminiPili multigemini Pili annulatiPili annulati Pili bifurcatiPili bifurcati
TrichothiodystrophyTrichothiodystrophy
Autosomal recessiveAutosomal recessive Brittle hair with Brittle hair with
markedly reduced markedly reduced sulfur contentsulfur content
Sulfur reduced 50% of Sulfur reduced 50% of normal valuenormal value
Distinctive features Distinctive features under polarized light under polarized light and scanning electron and scanning electron microscopymicroscopy
TrichothiodystrophyTrichothiodystrophy
With light With light microscopy microscopy trichoschisis (clean trichoschisis (clean transverse transverse fractures) may be fractures) may be seenseen
With polarized With polarized microscopy the microscopy the hair shows hair shows alternating bright alternating bright and dark regionsand dark regions
TrichothiodystrophyTrichothiodystrophy
Different mutations in the ERCC2 Different mutations in the ERCC2 DNA repair gene may lead to DNA repair gene may lead to different phenotypic expressions of different phenotypic expressions of the diseasethe disease
½ are photosensitive½ are photosensitive Clinical phenotype: PIBIDS Clinical phenotype: PIBIDS
(photosensitivity, ichthyosis, brittle (photosensitivity, ichthyosis, brittle hair, impaired intelligence, hair, impaired intelligence, decreased fertility, short stature)decreased fertility, short stature)
Pili tortiPili torti(twisted hairs)(twisted hairs)
A malformation of hair characterized A malformation of hair characterized by twisting of the hair shaft on its own by twisting of the hair shaft on its own axisaxis
The hair shaft is segmentally The hair shaft is segmentally thickened and light and dark segments thickened and light and dark segments are seenare seen
Scalp, eyebrows, and eyelashesScalp, eyebrows, and eyelashes Hairs are brittle and easily brokenHairs are brittle and easily broken Typically occurs in childhood and Typically occurs in childhood and
improves by pubertyimproves by puberty
Pili tortiPili torti(twisted hairs)(twisted hairs)
May be associated with patchy May be associated with patchy alopeciaalopecia
Follows a dominant inheritance Follows a dominant inheritance patternpattern
May be assoc with Bjornstad’s May be assoc with Bjornstad’s syndrome, citrullinemia, Menkes’ syndrome, citrullinemia, Menkes’ kinky hair syndrome, Bazex’s follicular kinky hair syndrome, Bazex’s follicular atrophoderma syndrome atrophoderma syndrome trichothiodystrophytrichothiodystrophy
Assoc with etretinate and isotretinoin Assoc with etretinate and isotretinoin
Menkes’ Kinky Hair SyndromeMenkes’ Kinky Hair Syndrome(steely hair disease)(steely hair disease)
X-linked recessive deficiency of X-linked recessive deficiency of serum copper and copper-dependent serum copper and copper-dependent enzymesenzymes
Pili torti, and often monilethrix and Pili torti, and often monilethrix and trichorrhexis nodosa are commontrichorrhexis nodosa are common
Characteristic ivory color of the hair Characteristic ivory color of the hair appears between 1 and 5 monthsappears between 1 and 5 months
Menkes’ syndromeMenkes’ syndrome
Pudgy face with “cupid’s bow” upper Pudgy face with “cupid’s bow” upper liplip
Doughy skinDoughy skin Psychomotor retardationPsychomotor retardation SeizuresSeizures Majority die in early childhoodMajority die in early childhood Mutation in Mutation in ATP7A, ATP7A, a gene that a gene that
encodes a copper transporting encodes a copper transporting ATPaseATPase
MonilethrixMonilethrix(beaded hairs)(beaded hairs)
Greek and latin derivative: necklace hairGreek and latin derivative: necklace hair Autosomal dominantAutosomal dominant Short, fragile, broken hair that appears Short, fragile, broken hair that appears
normal at birthnormal at birth Ultrastructure: alternating elliptical Ultrastructure: alternating elliptical
nodes and constrictionsnodes and constrictions Scalp usually the only region involvedScalp usually the only region involved Involvement of the hair may occur Involvement of the hair may occur
during pregnancy and resolve after during pregnancy and resolve after deliverydelivery
MonilethrixMonilethrix(beaded hairs)(beaded hairs)
Improvement may occur with ageImprovement may occur with age Seasonal improvement during the Seasonal improvement during the
summersummer Has been described in assoc with Has been described in assoc with
Menkes’Menkes’ Disease of the hair cortexDisease of the hair cortex No effective treatmentNo effective treatment
Trichorrhexis nodosaTrichorrhexis nodosa
Most common of all the structural hair Most common of all the structural hair abnormalitiesabnormalities
Affected hair shafts may have small white Affected hair shafts may have small white nodes arranged at irregular intervalsnodes arranged at irregular intervals
The nodes are the sites of fracture of the hair The nodes are the sites of fracture of the hair cortexcortex
Hairs soon break at the nodesHairs soon break at the nodes Found mostly on the scalpFound mostly on the scalp Often in a small area or areasOften in a small area or areas Pubic area, axillae and chest may be involvedPubic area, axillae and chest may be involved Microscopy: individual cortical cells and their Microscopy: individual cortical cells and their
fragments play out at fracture pointfragments play out at fracture point
Trichorrhexis invaginataTrichorrhexis invaginata(bamboo hair)(bamboo hair)
Caused by intussusception of the hair Caused by intussusception of the hair shaft at the zone where keratinization shaft at the zone where keratinization beginsbegins
The invagination is caused by the The invagination is caused by the softness of the cortex in the softness of the cortex in the keratogenous zonekeratogenous zone
patient has nodose ball and socket patient has nodose ball and socket deformitiesdeformities
Associated with Netherton’s syndrome Associated with Netherton’s syndrome with ichthyosiform erythroderma or with ichthyosiform erythroderma or ichthyosis linearis circumflexaichthyosis linearis circumflexa
Loose anagen syndromeLoose anagen syndrome
Disorder in which anagen hairs may be Disorder in which anagen hairs may be pulled from the scalp with little effortpulled from the scalp with little effort
Occurs mostly in blonde girls Occurs mostly in blonde girls No increased hair fragilityNo increased hair fragility Anagen hair can be easily and painlessly Anagen hair can be easily and painlessly
pulled from the scalppulled from the scalp Improves with age Improves with age Microscopic exam reveals a ruffled Microscopic exam reveals a ruffled
proximal cuticle and absence of the root proximal cuticle and absence of the root sheathsheath
Uncombable hair syndromeUncombable hair syndrome(pili triangulati et canaliculi)(pili triangulati et canaliculi)
““Spun glass” appearance due to the Spun glass” appearance due to the reflection of light from variably oriented, reflection of light from variably oriented, flattened hair surfacesflattened hair surfaces
Noted in the first years of life as dry, Noted in the first years of life as dry, blonde, shiny hair that stands straight out blonde, shiny hair that stands straight out from the scalp and cannot be combedfrom the scalp and cannot be combed
Longitudinal grooves make hair rigidLongitudinal grooves make hair rigid Autosomal dominant inheritanceAutosomal dominant inheritance Sporadic cases reportedSporadic cases reported Some cases improve spontaneously in Some cases improve spontaneously in
childhoodchildhood
Pili annulatiPili annulati(Ringed Hair)(Ringed Hair)
The hair seems banded by alternating The hair seems banded by alternating segments of light and dark color when segments of light and dark color when seen in reflected lightseen in reflected light
Light bands are caused by clusters of Light bands are caused by clusters of abnormal air-filled cavities which scatter abnormal air-filled cavities which scatter lightlight
Hair growth is normalHair growth is normal No other assoc abnormalitiesNo other assoc abnormalities Autosomal dominantAutosomal dominant Begins in infancy and requires no Begins in infancy and requires no
treatmenttreatment
Pili pseudoannulatiPili pseudoannulati
Mimics pili annulatiMimics pili annulati Bright segments are caused by Bright segments are caused by
reflection and refraction of light by reflection and refraction of light by flattened, twisted surfaces of hairflattened, twisted surfaces of hair
Variant of normal hairVariant of normal hair
Woolly hairWoolly hair Present at birth and usually most Present at birth and usually most
severe during childhoodsevere during childhood Variable amelioration in adulthoodVariable amelioration in adulthood Four subgroupsFour subgroups
• Hereditary woolly hair (AD)Hereditary woolly hair (AD)• Familial woolly hair (AR)Familial woolly hair (AR)• Woolly hair nevusWoolly hair nevus• Naxos diseaseNaxos disease
Tend to unite into Tend to unite into lockslocks
No assoc No assoc cutaneous or cutaneous or systemic diseasessystemic diseases
Pili multigeminiPili multigemini
Rare malformation of the pilary Rare malformation of the pilary apparatusapparatus
Characterized by the presence of Characterized by the presence of bifurcated or multiple divided hair bifurcated or multiple divided hair matrices and papillae, giving rise to matrices and papillae, giving rise to the formation of multiple hair shafts the formation of multiple hair shafts within the individual follicleswithin the individual follicles
No treatmentNo treatment
Pili bifurcatiPili bifurcati
Described in a 3 year old seen for Described in a 3 year old seen for hair losshair loss
Bifurcation was found in short Bifurcation was found in short segments along the shafts of several segments along the shafts of several hairshairs
Anomaly was transientAnomaly was transient
Trichostasis spinulosaTrichostasis spinulosa A common disorder of the hair follicles A common disorder of the hair follicles
that clinically gives the impression of that clinically gives the impression of follicular keratosisfollicular keratosis
Follicles are filled with funnel-shaped Follicles are filled with funnel-shaped horny plugs within which are bundles of horny plugs within which are bundles of vellus hairsvellus hairs
Hairs are round at their proximal ends Hairs are round at their proximal ends and are shredded distallyand are shredded distally
Occurs on the nose and forehead of Occurs on the nose and forehead of elderlyelderly
Shoulders and backShoulders and back
Trichostasis spinulosaTrichostasis spinulosa
Results from retention of telogen Results from retention of telogen hairshairs
Treatment with keratolytics after Treatment with keratolytics after using a wax depilatoryusing a wax depilatory
Tretinoin 0.05% solutionTretinoin 0.05% solution
Trichostasis spinulosaTrichostasis spinulosathe removed plugthe removed plug
Microscopically the Microscopically the tufts are made up tufts are made up of several dozen of several dozen fine, stubbly hairs fine, stubbly hairs
Trichostasis spinulosaTrichostasis spinulosa
Numerous vellus hairs Numerous vellus hairs within a folliclewithin a follicle
HypertrichosisHypertrichosis
An overgrowth of hair not localized to An overgrowth of hair not localized to the androgen-dependent areas of the the androgen-dependent areas of the skin.skin.• As opposed to hirsutism which is As opposed to hirsutism which is
excessive growth of terminal hairs in a excessive growth of terminal hairs in a “male pattern”“male pattern”
Several forms existSeveral forms exist
Localized acquired Localized acquired hypertrichosishypertrichosis
Systemic diseaseSystemic disease• PCTPCT
After repeated trauma, friction, After repeated trauma, friction, irritation or inflammation; hair may irritation or inflammation; hair may become longer and thickerbecome longer and thicker• On back in sack carriers, affected limb On back in sack carriers, affected limb
after plaster castafter plaster cast
Congenital localized hypertrichosisCongenital localized hypertrichosis
Congenital melanocytic neviCongenital melanocytic nevi• Hair may be present at birth, but usually increases in Hair may be present at birth, but usually increases in
infancyinfancy Becker’s neviBecker’s nevi
• Hamartoma, not a true nevusHamartoma, not a true nevus• Associated SNUB syndrome (supernummary nipples, Associated SNUB syndrome (supernummary nipples,
uropathies, Becker’s nevus)uropathies, Becker’s nevus) Nevoid hypertrichosisNevoid hypertrichosis
• Alteration characterized by growth of terminal hairs in a Alteration characterized by growth of terminal hairs in a circumscribed areacircumscribed area
Spinal dysraphismSpinal dysraphism• Alteration in the formation of a fold or elevation which is Alteration in the formation of a fold or elevation which is
constituted in the midline of the body as a consequence constituted in the midline of the body as a consequence of the union of two lateral portionsof the union of two lateral portions
• ““faun tail” mark as in spina bifidafaun tail” mark as in spina bifida
GeneralizedGeneralized Congenital HypertrichosisCongenital Hypertrichosis(congenital hypertrichosis lanuginosa)(congenital hypertrichosis lanuginosa)
Rare type of excessive and generalized Rare type of excessive and generalized hairinesshairiness
Fully penetrant X-linked dominant traitFully penetrant X-linked dominant trait Entire body covered with fine vellus hairs Entire body covered with fine vellus hairs
2-10 cm long, spares palms and soles2-10 cm long, spares palms and soles Scalp hair is normalScalp hair is normal May be assoc with dental anomalies and May be assoc with dental anomalies and
gingival fibromatosisgingival fibromatosis
““dog-faced boy” “human werewolf”dog-faced boy” “human werewolf”“human Skye terrier”“human Skye terrier”
Generalized Congenital HypertrichosisGeneralized Congenital Hypertrichosis(congenital hypertrichosis lanuginosa)(congenital hypertrichosis lanuginosa)
Other cases may be secondary to Other cases may be secondary to drug ingestion by the motherdrug ingestion by the mother
Fetal hydantoin syndromeFetal hydantoin syndrome Fetal alcohol syndromeFetal alcohol syndrome Minoxidil – case of generalized Minoxidil – case of generalized
hypertrichosis and multiple hypertrichosis and multiple congenital defects in a baby born congenital defects in a baby born to a mother who used minoxidil to a mother who used minoxidil throughout pregnancythroughout pregnancy
Generalized or patterned Generalized or patterned acquired hypertrichosisacquired hypertrichosis
These cases include those caused by These cases include those caused by acquired hypertrichosis lanuginosa, acquired hypertrichosis lanuginosa, those associated with various those associated with various syndromes, and those secondary to syndromes, and those secondary to drug intakedrug intake
Also an ominous sign of internal Also an ominous sign of internal malignancymalignancy
HirsutismHirsutism An excess of terminal hair growth in An excess of terminal hair growth in
women in a pattern more typical of menwomen in a pattern more typical of men Androgen-dependent growth areas Androgen-dependent growth areas
affected include the upper lip, cheeks, affected include the upper lip, cheeks, chin, central chest, breasts, lower chin, central chest, breasts, lower abdomen and groinabdomen and groin
May or may not be assoc with other signs May or may not be assoc with other signs of virilizationof virilization
Acne may be seenAcne may be seen When virilization accompanies hirsutism, When virilization accompanies hirsutism,
especially when progression is rapid, a especially when progression is rapid, a neoplastic cause is likelyneoplastic cause is likely
HirsutismHirsutismpathogenesispathogenesis
Racial variationRacial variation May result either from excessive May result either from excessive
androgens from either the ovary or androgens from either the ovary or the adrenal gland, or from excessive the adrenal gland, or from excessive stimulation by pituitary tumorsstimulation by pituitary tumors
All cases of progressive or severe All cases of progressive or severe hirsutism should be investigated for hirsutism should be investigated for an endocrinopathyan endocrinopathy
HirsutismHirsutismpathogenesispathogenesis
Ovarian causes include polycystic Ovarian causes include polycystic ovarian disease and a variety of ovarian disease and a variety of ovarian tumors, both benign and ovarian tumors, both benign and malignantmalignant
Stein-Leventhal syndrome Stein-Leventhal syndrome characterized by hirsutism 50%characterized by hirsutism 50%
Serum free testosterone is generally Serum free testosterone is generally elevated as is luteinizing hormoneelevated as is luteinizing hormone
HirsutismHirsutismpathogenesispathogenesis
Adrenal causes include congenital Adrenal causes include congenital adrenal hyperplasia and adrenal tumors adrenal hyperplasia and adrenal tumors such as adrenal adenomas and such as adrenal adenomas and carcinomascarcinomas
Adrenogenital syndrome is an autosomal Adrenogenital syndrome is an autosomal dominant disorder resulting from dominant disorder resulting from deficiencies in the following enzymes:deficiencies in the following enzymes:• 21-hydroxylase21-hydroxylase• 11B-hydroxylase11B-hydroxylase• 3B-hydroxy steroid dehydrogenase3B-hydroxy steroid dehydrogenase
HirsutismHirsutismpathogenesispathogenesis
Pituitary causes include Cushing’s Pituitary causes include Cushing’s disease, acromegaly, and prolactin-disease, acromegaly, and prolactin-secreting adenomassecreting adenomas
Other conditions in which prolactin Other conditions in which prolactin levels may be elevated and that may levels may be elevated and that may lead to hirsutism include lead to hirsutism include hypothyroidism, phenothiazine hypothyroidism, phenothiazine intake, and hepatorenal failureintake, and hepatorenal failure
HirsutismHirsutismpathogenesispathogenesis
Other causes include the exogenous Other causes include the exogenous intake of androgens and certain high-intake of androgens and certain high-progesterone bcp (uncommonly)progesterone bcp (uncommonly)
Minoxidil, diazoxide, corticosteroids Minoxidil, diazoxide, corticosteroids and phenytoin, which have been and phenytoin, which have been reported to cause hirsutism, reported to cause hirsutism, generally cause hypertrichosisgenerally cause hypertrichosis
diagnosisdiagnosis
Refer to endocrinologistRefer to endocrinologist Refer to gynecologistRefer to gynecologist Major elevation in the DHEA sulfate Major elevation in the DHEA sulfate
level (above 7000 ng/ml) suggests an level (above 7000 ng/ml) suggests an adrenal neoplasm CT is adrenal neoplasm CT is recommendedrecommended
treatmenttreatment
Once appropriate testing has led to Once appropriate testing has led to diagnosis and referral of patients diagnosis and referral of patients requiring special methods of specific requiring special methods of specific treatment, such as surgical treatment, such as surgical intervention, therapeutic alternatives intervention, therapeutic alternatives including cosmetic treatments, including cosmetic treatments, nonspecific suppressive therapy, and nonspecific suppressive therapy, and specific antiandrogens can be usedspecific antiandrogens can be used
Shaving, wax depilatories, chemical Shaving, wax depilatories, chemical depilatories, bleaching of the hair, laser depilatories, bleaching of the hair, laser hair removal, and electrolysishair removal, and electrolysis
treatmenttreatment
Oral contraceptives and Oral contraceptives and glucocorticoidsglucocorticoids
bcp helpful in 75% of hirsute womenbcp helpful in 75% of hirsute women Antiandrogens include, cimetidine, Antiandrogens include, cimetidine,
cyproterone acetate, spironolactone, cyproterone acetate, spironolactone, flutamide, and ketoconazoleflutamide, and ketoconazole
FinasterideFinasteride Gonadotropin-releasing hormone Gonadotropin-releasing hormone
agonist such as leuprolide and agonist such as leuprolide and nafarelinnafarelin