Delineating the Perforating Dermatoses: Case Reports and a Review of the Literature

Delineating the Perforating Dermatoses: Case Reports and a Review of the Literature Richard Limbert, DO,* Rachel White, BA,** Richard Miller, DO, FAOCD*** *Dermatology Resident, 3rd year, Nova Southeastern / Largo Medical Center, Largo, FL **Medical Student, 4th year, Philadelphia College of Osteopathic Medicine, Philadelphia, PA ***Program Director, Dermatology Residency, Nova Southeastern / Largo Medical Center, Largo, FL Abstract Perforating dermatoses (PD) are a rare group of papulonodular skin diseases with a distinct central keratotic core representing the transepidermal elimination of an altered dermal substance. Diagnosis is established via biopsy and histopathologic evaluation. The primary PD are best categorized into four groups: reactive perforating collagenosis (RPC), acquired perforating dermatosis (APD), elastosis perforans serpiginosa (EPS), and perforating calcific elastosis (PCE). The primary PD can be differentiated based on the perforating substance, the distribution of the lesions, and their unique associations. Diagnosis of a PD should prompt screening for underlying systemic disease. Treatment of the PD is often difficult, but numerous reports have shown success. Here we present our case reports and a thorough literature review incorporating all identified case reports and studies found on PubMed as of July 2015. Introduction follicular structures. Special stains may be used to Perforating dermatoses (PD) represent a rare help identify the perforating substance. group of papulonodular skin diseases with a The precise pathogenesis of the PD is unknown. It distinct central keratotic core. The core represents is postulated that the primary PD may be due to the transepidermal elimination of an altered abnormal dermal substances, whether genetically 1 dermal substance. Diagnosis is established altered or acquired. Other theories question via biopsy and histopathologic evaluation. whether the PD represent a unique pathologic Whereas primary PD are diseases chiefly process or are simply a result of mechanical characterized by transepidermal elimination, exposure of dermal substances.1 secondary PD are a group of unrelated Various classifications of the PD have been used disorders in which transepidermal elimination 1 in the literature, and various names have been is a minor phenomenon of another disorder. reported for each entity. This has led to ambiguity The primary PD are best categorized into four and confusion. A useful classification scheme of Figure 1. Dome-shaped papules with keratotic groups: reactive perforating collagenosis (RPC), 2 all PD was proposed by Patterson in 1984: core overlying the knuckles. acquired perforating dermatosis (APD), elastosis perforans serpiginosa (EPS), and perforating 1. Perforation as an incidental histologic finding calcific elastosis (PCE). The primary PD can be 2. Perforation associated with other cutaneous differentiated based on the perforating substance, and systemic disorders (secondary PD) the distribution of the lesions, and their unique associations (Table 1).1 Diagnosis of a PD 3. Disorders chiefly characterized by perforation should prompt screening for underlying systemic (primary PD) disease. Treatment of the PD is often difficult, but Even more numerous are the variations of the numerous reports have shown success. primary PD in the literature. The authors feel the Amongst the PD, a shared histopathologic best classification is outlined in Table 1 and will sequence occurs, and findings depend on the be discussed in this review. stage of evolution.1 First, a hyperkeratotic plug or crust forms. The plug enlarges, inducing Case Reports surrounding epidermal hyperplasia and occasional Case 1 dyskeratosis. Inflammatory cell aggregates may A 17-year-old Hispanic male presented with be seen in the plug and adjacent dermis. In Figure 2. Dome-shaped papules with keratotic a three-year history of spreading “warts.” He well-developed lesions, the plug contains the core overlying the elbow. denied pain, pruritus, or manipulation of lesions perforating substances: collagen, elastic fibers, and requested treatment for cosmetic concerns. amorphous degenerated material, and/or altered allergic rhinitis, and medulloblastoma. He Past medical history was significant for asthma, had attempted numerous over-the-counter Table 1. Primary perforating dermatoses treatments, including topical salicylic acid and Perforating Substance Location Associations cryotherapy, with no improvement. Reactive perforating Collagen Extremities, overlying None Physical exam revealed skin-toned, dome-shaped collagenosis sites of trauma papules with a central keratotic core concentrated over the dorsal hands (Figure 1), elbows (Figure Acquired Collagen, elastic fibers, Lower extremities or Pruritus, diabetes, 2), and knees. perforating or necrotic material generalized renal failure, liver dermatosis disease, malignancies, A punch biopsy of a representative lesion on the endocrinopathies elbow was taken (Figure 3). There was a cup- Elastosis perforans Elastic fibers Lateral neck, flexures Genetic diseases, shaped invagination of acanthotic epidermis with serpiginosa penicillamine a plug of keratin, collagen, and inflammatory debris. High magnification revealed Perforating calcific Calcified elastic fibers Abdomen, periumbilical, Multiparity, obesity vertically oriented collagen fibers undergoing elastosis areolar transepidermal elimination. Verhoeff-van Page 20 DELINEATING THE PERFORATING DERMATOSES: CASE REPORTS AND A REVIEW OF THE LITERATURE A punch biopsy was taken from the lower leg, RPC is histologically characterized by a cup- screening labs were ordered, and the patient shaped invagination of acanthotic epidermis was started on desoximetasone 0.25% ointment containing a plug of vertically oriented collagen bid. The biopsy revealed a channel through fibers, keratin, and inflammatory debris. The an acanthotic epidermis filled with a plug of connective tissue surrounding the plug is amorphous, degenerated material with overlying typically unremarkable.6 After the plug falls off, parakeratosis and underlying neutrophils the epidermis atrophies.There is no gold standard (Figure 6). Verhoeff-van Gieson stain failed of treatment for RPC. Treatment is not necessary to demonstrate perforating elastic fibers. Labs since lesions may spontaneously resolve and are revealed a low hemoglobin and elevated alkaline largely asymptomatic.1 Yasmeen et al. compared phosphatase, AST, and ALT. treatment between 10 patients with RPC and report the most successful responses were with oral isotretinoin and topical tretinoin combined Figure 3. Invagination of acanthotic with emollients.5 Other treatments reported epidermis with a plug of keratin, collagen, and with varying levels of success include: topical inflammatory debris (H&E). steroids under occlusion, photochemotherapy, UVB phototherapy, cryotherapy, allopurinol, Gieson stain failed to demonstrate perforating methotrexate, and electrical nerve stimulation.1,8 elastic fibers. A diagnosis of reactive perforating Despite all treatment regimens, RPC often collagenosis was made. recurs.8 The patient was started on topical tretinoin 0.1% Acquired Perforating Dermatosis cream daily. He returned after three months for APD is overwhelmingly the most common follow-up and displayed moderate improvement, PD. This category includes all PD arising in but smooth papules remained. The patient noted adults that have been previously reported as that the lesions tended to recur and decided Figure 6. A channel through acanthotic acquired RPC, acquired EPS, Kyrle’s disease, against further treatment. 1 epidermis filled with a plug of amorphous and perforating folliculitis, among others. degenerated material (H&E). Case 2 The splitting of this group reflects the variable A 42-year-old African American male presented histologic morphologies found in lesions of APD depending on the stage of development. A biopsy with an extremely pruritic, widespread eruption A diagnosis of acquired perforating dermatosis may reveal perforating collagen, elastic fibers, that had been worsening over three weeks. was established. The patient was referred to his amorphous degenerated material, and/or altered He tried over-the-counter itch creams and gastroenterologist for evaluation and treatment 9 follicular structures. emollients with no benefit. Past medical history of his anemia and hepatitis and was subsequently was significant for alcoholic hepatitis. He lost to follow-up. The classification of APD has changed over time, reported a similar eruption several years ago that and disagreement remains amongst authors. was successfully cleared with phototherapy. Discussion Kyrle’s disease was first described by Kyrle in Physical exam revealed hyperpigmented, 1916 as “follicular et parafollicularis in cutem keratotic papules scattered on the face, trunk, and Reactive Perforating Collagenosis penetrans” in a diabetic female with generalized RPC was first reported in a 6.5-year-old female hyperkeratotic nodules.10 Kyrle’s disease is extremities (Figure 4). Some lesions displayed a 3 strikingly linear pattern (Figure 5). by Mehregan et al. in 1967. It is a very rare, sometimes used synonymously with APD, and inherited disease thought to be caused by a genetic some describe it as the end stage of excoriated abnormality of collagen. Attempts to isolate the hyperplastic nodules of folliculitis. Patterson specific genetic defect have been unsuccessful et al. propose that perforating folliculitis and to date.

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