Delineating the Perforating Dermatoses · collagenosis. J Am Acad Dermatol 2009; 60:463-469. •...

Delineating the Perforating Dermatoses

Richard Limbert, DO PGY-4

AOCD Spring Meeting

April 23, 2015

Objectives

• Present case reports of perforating dermatoses

• Review unique clinical and histopathological findings

• Establish a concise classification scheme

• Discuss the workup of a patient with a perforating dermatosis

• Review potential treatment options

Perforating Dermatoses

• Group of papulonodular skin diseases clinically characterized by a central keratotic core

• Core represents transepidermal elimination of dermal elements

• 4 primary perforating dermatoses

– Reactive perforating collagenosis (RPC)

– Acquired perforating dermatosis (APD)

– Elastosis perforans serpiginosa (EPS)

– Perforating calcific elastosis (PCE)

Primary Perforating Dermatoses

Perforating Substance

Location Associations

Reactive Perforating Collagenosis

Collagen Extremities, overlying sites of trauma

None

Acquired Perforating Dermatosis

Collagen, elastic fibers, or necrotic material

Lower extremities or generalized

Pruritus, diabetes, renal failure, liver disease, malignancies, endocrinopathies

Elastosis PerforansSerpiginosa

Elastic fibers Lateral neck, flexures Genetic diseases, penicillamine

Perforating CalcificElastosis

Calcified elastic fibers

Abdomen, periumbilical, areolar

Multiparity, obesity

Case Report

• 17 year old Hispanic male

• 3 year history of spreading “warts”

• Denies pain, pruritus, or manipulation of lesions

• Cosmetically disturbing

• Past Medical History

– Asthma, allergic rhinitis, medulloblastoma

• Prior treatments

– Lactic acid, salicylic acid, OTC cryotherapy

Case Report

Right Elbow

4x

Right Elbow

10X

Verhoeff-van Gieson Stain


Case Patient

• Topical tretinoin 0.1% cream

• Mild improvement

• Lesions tend to recur

• Patient admits to non-compliance

–Lesions no longer bother him

Follow-up after topical tretinoin


• Rare, <50 reported cases

• Familial, typically autosomal recessive

– Genetic abnormality in collagen

• Begins in childhood

• 5-8mm keratotic papules over areas of trauma

– + Koebnerization

– Asypmtomatic

– May spontaneously resolve





Collagen Extremities,overlying sites of trauma

None











Case Report

• 42 year old African American male

• 3 week history of eruption on trunk and limbs

• Extremely pruritic

• History of alcoholic hepatitis

• Similar episode a few years ago that resolved after UV light therapy

Case Report

Right Lower Leg

10X

Verhoeff-van Gieson Stain

40X


• Includes perforating dermatoses arising in adults previously named:

– Acquired reactive perforating collagenosis

– Acquired elastosis perforans serpiginosa

– Kyrle’s disease

– Perforating folliculitis

• May represent different stages of development

• Lesions have different morphologies in the same patient

– Collagen, elastin, amorphous material, +/- follicular structures


• Lower legs or generalized

• Pruritus → chronic scratching → epidermal hyperplasia

• Diabetes mellitus or renal failure (10% of dialysis patients)

– ↑ fibronectin found in serum and lesional skin

• Other associations

– Liver: primary sclerosing cholangitis, alcoholic cirrhosis

– Malignancy: lymphoma, hepatic, thyroid

– Endocrine: hypothyroid, hyperparathyroid

– Congestive heart failure

– Drugs: indinavir, TNFα inhibitors






None











Elastosis Perforans Serpiginosa

Elastosis Perforans Serpiginosa

• 2-5mm keratotic papules

– Annular or serpiginous pattern

– Lateral neck > face, flexures

– Childhood or 2nd decade

– Asymptomatic

• 3 general categories

– Idiopathic (most common)

– Reactive

– Drug-induced

Reactive Elastosis Perforans Serpiginosa

• 40% have genetic disease affecting fibrous tissue

– Down syndrome (most common)

– Ehlers-Danlos syndrome

– Osteogenesis imperfecta

– Marfan syndrome

– Pseudoxanthoma elasticum

– Systemic sclerosis

– Rothmund-Thomson syndrome

– Acrogeria

Hematoxylin and Eosinvs Acid Orcein-Giemsa Stain

Drug-induced EPS

• Penicillamine

– 1% of patients

– Inhibits lysyl oxidase → elastic tissue damage

– “bramble brush” elastic fibers with lateral buds






None











Perforating Calcific Elastosis

Perforating Calcific Elastosis

• Rare

• Most commonly reported in multiparous, obese, middle aged, black women

• Periumbilical and/or periareolar

• Repeated trauma of stretching causes elastic fiber degeneration

• Similar clinical and histological appearance to pseudoxanthoma elasticum (PXE)

– Lacks systemic symptoms, screen for FHx of PXE

• No effective treatment

Periumbilical Plaque






None









Abdomen, periumbilical,areolar


Differential Diagnosis

• Flegel’s disease

• Keratoacanthomas

• Darier’s disease

• Keratosis pilaris

• Lichen planus

• Actinic Granuloma

• Porokeratosis

• Discoid lupus

• Psoriasis

• Molluscum contagiosum

• Verruca vulgaris

• Prurigo nodularis

• Squamous cell carcinoma

Keratotic papules

• Granuloma annulare• Tinea• Sarcoidosis

Annular plaques

Secondary Perforating Disorders

• Endogenous substances

– Chondrodermatitisnodularis helicis

– Hematomas

– Perforating pseudoxanthoma elasticum

– Perforating calcinosis

– Lichen nitidus

– Papular mucinosis

– Amyloidosis


• Granulomas

– Perforating granuloma annulare

– Necrobiosis lipoidica

– Sarcoidosis

– Rheumatoid nodule

– Gout tophi


• Foreign material

– Silica

– Wood

– Suture

• Infectious disease

– Chromoblastomycosis

– Leprosy

– Shistomiasis

– Tuberculosis

– Leishmaniasis


• Tumor cells

– Melanoma

– Paget‘s disease

– Mycosis fungoides

– Pilomatricoma

– Nevus sebaceous

– Keratoacanthoma

Workup

• Thorough history and physical

– Evaluate for underlying disease

– Screen for family history

• Check labs

– CBC

– CMP

– Ferritin

• Biopsy is essential for diagnosis

• Proper referrals if warranted

Treatment

• Often disappointing. No controlled trials.

• Treat the underlying disease (APD)

• Topical steroids (concomitant LSC, PN)

• Target pruritus

– Soothing lotions

– Antihistamines

– UV light

• Destruction: cryotherapy, CO2 laser

– Caution dyspigmentation, poor wound healing on lower legs

Treatment

• Allopurinol (APD)

– Free radical scavenger, inhibits neutrophil activity

• Topical and systemic retinoids

• Few cases show success with:

– Antibiotics (clindamycin, doxycycline)

– Keratolytics

– 5-FU

– Methotrexate

– Antimalarials

Summary

• Perforating disorders are characterized by keratotic plugs of the perforating material

• There are four distinct primary perforating diseases

– Reactive perforating collagenosis (RPC)

– Acquired perforating dermatosis (APD)

– Elastosis perforans serpiginosa (EPS)

– Perforating calcific elastosis (PCE)

• Biopsy is key to establishing the diagnosis

Summary

• The diagnosis of a perforating disorder should prompt the evaluation for systemic disease

• Treatment is often difficult

– Success with:

• Treating the underlying disease

• Targeting pruritus

• UV light

• Allopurinol

• Retinoids

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Thank You

Dr. Richard Miller

Dr. George Gibbons

Rachel White, OMS IV

Delineating the Perforating Dermatoses · collagenosis. J Am Acad Dermatol 2009; 60:463-469. •...

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