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Perforating dermatoses
Evidence Levels: A Double-blind study B Clinical trial ≥ 20 subjects C Clinical trial < 20 subjects D Series ≥ 5 subjects E Anecdotal case reports
The perforating dermatoses are a varied group of conditions characterized by the transepidermal elimination of dermal material. Four primary conditions are included in the discussion of the perforating disorders:
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Reactive perforating collagenosis (RPC), which is characterized by the transepidermal elimination of collagen
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Elastosis perforans serpiginosa (EPS), characterized by transepidermal extrusion of elastic material
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Perforating folliculitis, in which epidermal perforation involves hair follicles
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Kyrle disease, in which dermal connective tissue perforates through the epidermis
Management Strategy
Definitive diagnosis of the perforating disorders depends on the demonstration of transepidermal elimination on skin biopsy. Differentiation between the different forms of perforating disorders can be accomplished by Masson trichrome stains for collagen (RPC), Verhoeff–van Gieson stains for elastic tissue (EPS), and step-sectioning to look for hair follicles (perforating folliculitis). Differentiation between these various disorders may be important, as EPS is associated with other diseases such as pseudoxanthoma elasticum, Down syndrome, osteogenesis imperfecta, Ehlers–Danlos syndrome, Rothmund–Thomson syndrome, Marfan syndrome, and penicillamine treatment. RPC is commonly associated with diabetes and chronic kidney disease.
Acquired perforating dermatoses have been associated with several medications, including sorafenib, natalizumab, azathioprine, and telaprevir. In particular, acquired RPC has occurred in patients treated with indinavir, erlotinib, sorafenib, and sirolimus. Perforating folliculitis has been reported in patients treated with tumor necrosis factor-α blockers, nilotinib, lenalidomide, and sorafenib; a patient with cystic fibrosis; and a patient who had previously suffered from varicella in the same distribution as the perforating folliculitis lesions.
Management of the perforating diseases involves determination of underlying etiologies. Most often, conditions such as diabetes mellitus and renal failure will be known to the patient who presents with perforating skin lesions. When the underlying cause is not apparent, serum chemistry for renal and liver function tests and oral glucose tolerance test or hemoglobin A 1C may be helpful.
Once the diagnosis of underlying diseases is ascertained, treatment is directed at associated symptoms. Pruritus can be managed initially with topical or intralesional corticosteroids, topical anesthetics, and menthol, as well as oral antihistamines, but the latter agents are usually not sufficiently effective. Minimizing pruritus is important because many of the perforating disorders typically exhibit a Koebner phenomenon, meaning that lesions develop in traumatized or scratched skin. Topical antipruritic agents such as menthol, phenol, or camphor and topical anesthetics such as lidocaine and pramocaine are useful. Topical doxepin hydrochloride or oral antihistamines may also be of some benefit. Trimming the fingernails to minimize trauma to the skin and avoidance of scratching are key elements of treatment. Topical tretinoin and topical tazarotene have been shown to be effective for some patients. For those patients whose condition is exacerbated by sun exposure, sunscreens may be helpful. Conversely, in patients with renal disease ultraviolet B (UVB) is dramatically effective for pruritus and has been reported to benefit perforating skin lesions as well. If UVB and topical retinoids are ineffective, oral retinoids , allopurinol , or antibiotics can be tried. More recently, case reports have detailed improvement with amitriptyline (10–25 mg daily for several weeks), topical tacrolimus, and topical vitamin D analogs, including tacalcitol and maxacalcitol.
Specific Investigations
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Clinicopathological features of 25 patients with acquired perforating dermatosis
Akoglu G, Emre S, Sungu N, et al. Eur J Dermatol 2013; 23: 864–71.
Of the 25 patients with acquired perforating dermatosis, 17 (68%) had acquired RPC, 7 patients (28%) had perforating folliculitis, and 1 patient (4%) had Kyrle disease. The most commonly associated disease was diabetes mellitus (12 patients, 48%); 5 patients (20%) had chronic kidney disease, 2 patients had thyroid disease, and 1 patient had hepatitis C.
Familial reactive perforating collagenosis: a clinical, histopathological study of 10 cases
Ramesh V, Sood N, Kubba A, et al. J Eur Acad Dermatol Venereol 2007; 21: 766–70.
Ten patients with familial RPC responded to topical retinoic acid. The authors suggested that sunscreens may benefit patients whose lesions develop in the summer.
Familial RPC may be a distinct entity that occurs in infancy or early childhood. It is of interest that sunlight might play a role in the development of this condition, as phototherapy is used therapeutically in adults with perforating disorders .
Tazarotene is an effective therapy for elastosis perforans serpiginosa
Outland JD, Brown TS, Callen JP. Arch Dermatol 2002; 138: 169–71.
Two patients with EPS responded to daily treatment with 0.1% tazarotene gel. A 22-year-old woman had been treated unsuccessfully with liquid nitrogen cryotherapy, topical tretinoin, oral isotretinoin, and carbon dioxide (CO 2 ) laser surgery. A 56-year-old woman had failed to respond to cryotherapy, corticosteroids, tretinoin, and triamcinolone acetonide. Both patients were treated with tazarotene. The skin condition of the 22-year-old greatly improved, and that of the 56-year-old improved moderately.
Successful treatment of Kyrle disease with narrowband ultraviolet B
Matsuzaki Y, Yokoyama S, Rokunohe A, et al. J Dermatol 2017; 44: 721–2.
A 36-year-old woman with Kyrle disease was treated with narrowband UVB. After 24 exposures (cumulative dose: 25,700 mJ/cm 2 ), pruritus resolved with improvement of lesions at 6 months.
In another case report, an 8-year-old boy with familial RPC received narrowband UVB three times a week. After 25 exposures (cumulative dose: 38,150 mJ/cm 2 ) the lesions completely regressed with residual scars and pigmentation changes .
Broadband UVB is also a well-established modality for uremic pruritus. Because many patients with perforating diseases have associated renal failure, UVB phototherapy may dramatically benefit pruritus and reduce the number of skin lesions.
Acquired reactive perforating collagenosis: four patients with a giant variant treated with allopurinol
Hoque SR, Ameen M, Holden CA. Br J Dermatol 2006; 154: 759–62.
Four patients failed topical and oral corticosteroids and antibiotics and were started on allopurinol 100 mg once daily despite normal serum uric acid levels. Three of the four experienced dramatic improvement at 2–4 months, with prevention of new lesions, a reduction in pruritus, and clearance of existing lesions. The fourth patient died before the follow-up examination.
In another case report, a patient treated with 100 mg allopurinol daily had full resolution of pruritus and lesions within 4 weeks, without recurrence at 14 months’ follow-up. Numerous anecdotal reports have documented improvement of perforating disorders with allopurinol treatment, regardless of whether uric acid levels are elevated or normal .
D-penicillamine-induced pseudo-pseudoxanthoma elasticum and extensive elastosis perforans serpiginosa with excellent response to acitretin
Chisti MA, Binamer Y, Alfadley A, et al. Ann Saudi Med 2019; 39: 56–60.
A 37-year-old man with D-penicillamine-induced EPS was treated with oral acitretin 25 mg/day for 2 weeks followed by 30 mg/day, and experienced almost total clearance of lesions at 9 weeks. A maintenance dose of 25 mg every other day was required to prevent flaring.
Kyrle’s disease effectively treated with oral isotretinoin
Maurelli M, Gisondi P, Girolomoni G. J Dermatolog Treat 2018; 29: 630–2.
A 63-year-old patient with Kyrle disease refractory to treatment with systemic corticosteroids and narrowband UVB was treated with oral isotretinoin 20 mg/day for 6 months followed by 10 mg/day for 4 months once remission was complete. Lesions remained clear at 9 months’ follow-up.
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