Elastosis Perforans Serpiginosa Research Articles

Elastosis Perforans Serpiginosa, Down Syndrome, and Moyamoya Disease

A 16-year-old girl with Down syndrome, moyamoya disease, and history of a previous stroke presented with acute onset of left hemiparesis and elastosis perforans serpiginosa. Elastosis perforans serpiginosa in a patient with Down syndrome and moyamoya disease is a novel finding. Development of elastosis perforans serpiginosa in association with progressive vaso-occlusive disease may be a biological marker of progression of moyamoya disease.

Elastosis Perforans Serpiginosa

A 41-year-old white man with Down syndrome presented with a slightly pruritic, papular eruption on bilateral forearms of several years' duration. Physical examination revealed multiple 2- to 3-mm keratotic, umbilicated pink papules in an annular configuration distributed symmetrically on the flexural surfaces of the forearms (Figure 1). The skin surrounding these papules was noted to be hyperpigmented and somewhat atrophic. The remainder of his skin examination was unremarkable. A shave biopsy of 1 papule was performed and stained with hematoxylin-eosin. Hematoxylin-eosin-stained sections showed clumps of bright red fibers being extruded through an acanthotic epidermis with a central invagination (Figure 2). Verhoeff-van Gieson stain confirmed these fibers to be elastin (Figure 3). Elastosis perforans serpiginosa was diagnosed.

Elastosis perforans serpiginosa en una enferma afecta de pseudoxantoma elástico

A 34-year-old female previously diagnosed of pseudoxanthoma elasticum developed an annular plaque with serpiginous borders of 42 by 30 mm in diameter on the inner left arm. A similar lesion later appeared on the inner right arm. Histopathological examination of a papule showed short, fragmented, granular, basophilic and calcified elastic fibers in the mid-reticular dermis. The epidermis showed hyperplasia surrounding degenerated and normal elastic fibers. Transepidermal elimination channels of these elastic fibers were also observed. These findings were consistent with the diagnosis of elastosis perforans serpiginosa. Abundant multinucleated giant cells were observed surrounding the area of epidermal hyperplasia and in the reticular dermis. The patient was treated with tazarotene, and the plaques disappeared in 9 months.

Acquired perforating dermatosis: clinicopathological features in twenty‐two cases

The term of acquired perforating dermatosis (APD) comprises the perforating dermatoses occurring in adult patients. Clinical and histological features of the disease are not uniform, and may resemble any of the four classic perforating disorders: elastosis perforans serpiginosa, reactive perforating collagenosis, perforating folliculitis or Kyrle's disease. Chronic renal failure and/or diabetes mellitus usually accompany this skin disease. The aim of this study was to delineate the clinical and histopathological features of acquired perforating dermatosis and to investigate the potential relationship between this disease and associated conditions. Twenty-two patients with acquired perforating dermatosis were enrolled in this study. Clinical findings of acquired perforating dermatosis and the spectrum of associated diseases were investigated. Haematoxylin and eosin sections were re-examined, and immunohistochemical stainings (elastic van Gieson and Masson trichrome stains) and periodic acid-Schiff stain were also used for histopathological evaluation. Different clinical types of lesions resembling reactive perforating collagenosis, perforating folliculitis or Kyrle's disease were observed. Histopathological features were consistent with any of the four types of perforating dermatoses. Most of the patients (86.4%) had at least one systemic disease. Chronic renal failure (72.7%) and diabetes mellitus (50%) were the most commonly associated conditions. Most of the patients with diabetes mellitus (90.9%) had chronic renal failure due to diabetic nephropathy. All of the patients with chronic renal failure were on dialysis treatment. The other associated conditions were hepatitis (27.3%), anti-HCV Ab-positivity (13.6%), hypothyroidism (9.1%) and tuberculosis lymphadenitis (4.5%). Of the 22 patients, 13.6% were otherwise healthy, and 9.1% were renal transplant recipients. Clinicopathological findings of our study indicate that the cases with APD represent the broad spectrum of perforating disorders rather than the variants of the same disease. Although APD is frequently associated with diabetes mellitus and chronic renal failure, this skin disorder may also develop in patients with other systemic disorders, and in those without any medical problems. This skin disease is probably linked to dialysis treatment in patients with chronic renal failure due to diabetes mellitus or other causes.

What is Standard of Care in the Evaluation of Elastosis Perforans Serpiginosa? A Survey of Pediatric Dermatologists

Elastosis perforans serpiginosa is a rare chronic dermatosis characterized by extrusion of altered elastic fibers through the epidermis. It often occurs in association with a variety of connective tissue disorders, and may develop following penicillamine therapy; however, it may also present without comorbidities. There are currently no well-established protocols for the investigation of possible associated disorders in patients who present with elastosis perforans serpiginosa. We describe three patients with idiopathic elastosis perforans serpiginosa seen at our clinic and review the standard of care among 31 pediatric dermatologists surveyed who have cared for such a patient within the last 2 years. Based upon the results of our survey, we conclude that most pediatric dermatologists limit their evaluation of such patients to a thorough patient history and physical examination. This limited approach may be a sufficient evaluation in affected patients who are otherwise healthy.

Elastosis perforans serpiginosa in a patient with trisomy 21

A 12-year-old girl with trisomy 21 (Downs syndrome) presented with an approximate 2-year history of an asymptomatic eruption on the right upper arm and left lateral neck that was clinically and histologically diagnostic of elastosis perforans serpiginosa (EPS). EPS is a perforating dermatosis affecting the face, ear, neck, extremities, or trunk. It occurs with greater frequency in persons with trisomy 21, as well as some other genetic syndromes and after D-penicillamine therapy. It has also been reported as a sporadic, presumably unrelated disorder in several acquired diseases.

An iatrogenic dermatosis with ulceration.

Conflict of interest: none declared. A 36‐year‐old woman presented with a 1‐year history of denuded nodules on the perianal area. She complained of skin laxity in the axilla, groin and abdomen of 7 years' duration, and she had multiple, yellowish, 2–3 mm sized papules on her neck, giving a ‘plucked chicken’ appearance (Fig. 1). She had been on long‐term penicillamine therapy at a dose of 1 g daily since the age of 10 years for treatment of Wilson's disease. Skin examination demonstrated several denuded nodules with marginal induration on the perianal area (Fig. 2). ... ... Skin biopsy taken from lesions on the perianal area showed transepidermal elimination of the abnormal elastic fibres, which were thickened with prominent lateral protrusions, giving the so‐called ‘lumpy‐bumpy’ or ‘bramble‐bush’ appearance (Fig. 3). ... What is your diagnosis? Penicillamine‐induced degenerative dermatosis. Penicillamine is a copper chelator used at high doses for the treatment of Wilson's disease. An acute hypersensitivity eruption may appear within the first 10 days of treatment, and immunological disorders such as pemphigus vulgaris, pemphigus foliaceus, bullous pemphigoid, systemic lupus erythematosus and dermatomyositis are well‐known manifestations that occur later in the course of therapy.1, 2 At higher doses of penicillamine, a spectrum of cutaneous elastotic and collagen disorders, including pseudo‐pseudoxanthoma elasticum, elastosis perforans serpiginosa, cutis laxa and anetoderma, can occur, and combinations of these have been also reported.1–3 Iozumi et al.3 proposed that these dermatoses should be summarized as one entity, penicillamine‐induced degenerative dermatoses, because of the pathogenic background and clinical similarities. The underlying mechanism is thought to involve direct inhibition of cross‐linkage of collagen fibres by penicillamine.4 In addition, the enzyme lysyl oxidase, required for cross‐linking of collagen fibres, is dependent on the presence of copper and therefore may be inhibited by removal of copper from the tissues by penicillamine.,1, 5

Reactions to Penicillamine: A Case of Cutis Laxa, Elastosis Perforans Serpiginosa and “Pseudo” Pseudoxanthoma

This patient was a 61‐year‐old white female who received several years of penicillamine therapy for the treatment of cystinuria. She subsequently developed penicillamine induced cutis laxa, elastosis perforans serpiginosa, and pseudoxanthoma elasticum like skin lesions. In addition, she suffered from numerous chronic bilateral lower extremity skin ulcerations. Her past medical history was also significant for end stage renal disease requiring hemodialysis and pulmonary fibrosis. She presented to the University of Miami Wound Care Center in 1/04 for treatment of her chronic ulcerations. On physical examination, the patient had multiple large hyperpigmented plaques with central ulcerations on her lower extremities. Some of the ulcers had overlying crust and others were covered with yellow fibrinous tissue. She also had generalized thickened, lax skin with multiple folds. On her neck, thighs, back and arms were violaceous, atrophic, serpiginous plaques with peripheral crusted erosions. A biopsy taken from the patients left thigh revealed dermal elastosis and the features of pseudo‐pseudoxanthoma. Two additional biopsies taken from the left thigh demonstrated elastosis perforans serpiginosa. This case highlights multiple skin manifestations of penicillamine therapy.

Penicillamine induced pseudoxanthoma elasticum with elastosis perforans serpiginosa

Long term D-penicillamine therapy, especially when used to treat Wilson's disease has been shown to cause elastosis perforans serpiginosa, pseudoxanthoma elasticum perforans and other degenerative dermatoses. We report a 23-year-old male patient who presented with multiple firm papules, nodules over the neck, axillae, front of elbows for five years. He was a known case of Wilson's disease on long-term treatment with penicillamine for the past 12 years. The papulonodular lesions were non-tender and some were discrete while others were arranged in a circinate pattern. There was central scarring of the skin within the circinate lesions. In addition, there were several small yellowish papules on both sides of the neck which eventually became confluent to form plaques. Histopathology confirmed the diagnosis of elastosis perforans serpiginosa and pseudoxanthoma elasticum. He was treated with cryotherapy (using liquid nitrogen through cryojet) for former lesions. The lesions showed remarkable improvement after five sittings. Now the patient is under trientine hydrochloride (750 mg twice daily) for Wilson's disease.

Acquired perforating dermatosis: A report on 4 cases associated with scabies infection

To the Editor: Acquired perforating dermatosis (APD) belongs to a group of perforating skin disorders with an obligatory transepidermal elimination of dermal components (TEE). They are divided into primary and secondary forms: primary perforating dermatoses include idiopathic, distinct entities such as elastosis perforans serpiginosa, perforating folliculitis, Kyrle's disease, and reactive perforating collagenosis. A secondary form is APD, formerly known as acquired reactive perforating collagenosis.1 APD has been reported to be associated with diabetes mellitus, chronic renal failure, malignant neoplasia, liver disorders, and HIV infection.2 Pruritus is the most prominent feature, and linear configuration and Koebner phenomenon can be observed occasionally. The TEE tissue is variable in APD, where collagen and/or elastic fibers can be found.3 Clinically, umbilicated papules and nodules with a central adherent, brownish-greenish keratotic plug characterize APD, histologically showing TEE of altered fibers into a cup-shaped epidermal depression. These findings combined with an onset after the age of 18 years have been described by Faver et al4 as obligatory diagnostic criteria for APD. Topical steroids, systemic retinoids, phototherapy, h1-antihistamines, allopurinol, doxycycline, cryotherapy, and liquid nitrogen have been used for treatment with varying degree of success. Recently, Kurschat et al5 reported one case of APD triggered by scabies infection. Accordingly, we here describe 4 cases of scabies-provoked APD.

Perforating disorder caused by salt‐water application and its experimental induction

Perforating disorders are uncommon diseases characterized by transepidermal elimination histopathologically and include reactive perforating collagenosis, elastosis perforans serpiginosa, Kyrle's disease and perforating folliculitis. In addition, perforating disorders can develop in patients with diabetes mellitus, renal failure and even by accidental exposure of calcium salts. We report two cases of perforating disorder caused by chemical burn with commercially available salt-water application for self-treatment of chronic dermatitis or pruritus. The commercially used salt water for making bean curd was analyzed and it consisted of calcium and other salts without harmful heavy metals. We induced a similar phenomenon by experimental application of commercial salt water on guinea pigs. Bean curd is used as a food commonly in the Far-East, allowing a greater chance of exposure to salt water accidentally or occupationally. Bean curd is becoming more popular even in Western countries. To confirm causation, we induced a similar phenomenon in guinea pigs by experimental application of commercial salt water.

Elastosis perforante serpiginosa de localización inusual en un paciente con síndrome de Down

Abstract—Elastosis perforans serpiginosa (EPS) is a chronic and infrequent dermatosis, belonging to the group of primary perforating dermatoses. Three main forms have been described: idiopathic forms; reactive forms associated with hereditary connective tissue diseases or with Down's Syndrome; and forms associated with chronic treatments with penicillamine.In patients with Down's syndrome, a prevalence of EPS of 1% has been observed, and there seems to be a predisposition to develop more generalized lesions that are more resistant to treatment.Elastosis perforans serpiginosa is triggered by excess production of morphologically and biochemically altered elastic fibers, located in the papillary dermis. These fibers act as foreign matter, triggering a reaction through which they are eliminated through transepidermal ducts.

Response of Elastosis Perforans Serpiginosa to Pulsed CO2, Er:YAG, and Dye Lasers

Response of Elastosis Perforans Serpiginosa to Pulsed CO2, Er:YAG, and Dye Lasers

Response of Elastosis Perforans Serpiginosa to Pulsed CO2, Er:YAG, and Dye Lasers

Response of Elastosis Perforans Serpiginosa to Pulsed CO2, Er:YAG, and Dye Lasers

Response of Elastosis Perforans Serpiginosa to Pulsed CO2, Er:YAG, and Dye Lasers

Response of Elastosis Perforans Serpiginosa to Pulsed CO2, Er:YAG, and Dye Lasers

Expression of the 67-kDa elastin receptor in perforating skin disorders.

Perforating skin dermatoses include elastosis perforans serpiginosa (EPS), reactive perforating collagenosis, Kyrle's disease and perforating folliculitis. In addition to these four diseases, an acquired form of perforating dermatosis associated with diabetes mellitus and/or chronic renal failure has been reported for which the term acquired perforating dermatosis (APD) was proposed. The molecular mechanism of transepidermal elimination of dermal components in perforating skin dermatoses remains unclear. We recently demonstrated that the 67-kDa elastin receptor can be detected in the epidermis eliminating altered elastic fibres in EPS, suggesting that the elastin-keratinocyte interaction may play a role in transepidermal elimination in EPS. To determine whether the 67-kDa elastin receptor is involved in other perforating diseases. Paraffin-embedded skin specimens from new cases of EPS (n = 2), APD (n = 15) and perforating granuloma annulare (PGA; n = 2) were studied immunohistochemically using a specific antibody to the 67-kDa elastin receptor. In one case of EPS, two different sites from a single lesion, a central atrophic area and a peripheral keratotic area, were studied. Expression of the elastin receptor was detected in the epidermis surrounding the elastic materials in both cases of EPS. The elastin receptor was not detected in the central inactive area, whereas it was expressed strongly in the peripheral keratotic active area. The elastin receptor was also detected in three of 15 cases of APD in which a few elastic fibres were found in the eliminated dermal materials. In one case of APD, the elastin receptor was not detected in spite of the presence of a few elastic fibres in the eliminated materials. The elastin receptor was not detected in either case of PGA. Expression of the elastin receptor in EPS was seen in both cases studied and was dependent on the stage of the lesion. Expression of the elastin receptor in APD appeared to be related to the amount of elastic fibres in the eliminated materials. Thus, expression of the elastin receptor in perforating skin disorders may depend on the stage of the lesion and/or the content of elastic fibres in the dermal materials being eliminated.

An Updated Survey on Skin Conditions in Down Syndrome

Background: Only three not concordant surveys have been published on skin conditions associated with Down syndrome. Objective: A sample ranging from infancy to adulthood, using acknowledged criteria for diagnosis, may highlight the skin involvement in Down syndrome. Methods: We report the skin conditions observed in 203 people with Down syndrome, separated according to five different age ranges. We have set up two main groups of skin features: the phenotype and the dermatological diseases. Results: The single palmar crease and xerosis are strongly represented within the phenotype. Among the dermatological diseases, folliculitis and syringomas have been observed mainly in adolescence and adulthood. Atopic dermatitis has been recognized in 10 subjects. Alopecia areata and milia-like idiopathic calcinosis cutis appeared in 6 subjects. Conclusion: People with Down syndrome suffer from peculiar dermatoses (syringomas, milia-like calcinosis, elastosis perforans serpiginosa). Other conditions (folliculitis, alopecia areata) are frequently observed.

Erworbene reaktiv perforierende Dermatose bei Psoriasis vulgaris - Therapeutisches Ansprechen auf Allopurinol -

Case Report. Acquired reactive perforating dermatosis (ERPD) has above all been described to be associated with diabetes mellitus and chronic renal failure. This rare disorder belongs to the group of the primary perforating dermatoses like hyperkeratosis follicularis et parafollicularis in cutem penetrans (Kyrle's disease), perforating folliculitis (PF), elastosis perforans serpiginosa (EPS) and hereditary reactive perforating dermatosis of childhood (HRPD). We report on a 75-year old woman with marked ERPD associated with a long-standing Psoriasis vulgaris. Successful treatment with orally administered allopurinol is demonstrated. We stress the fact that ERPD belongs to the group of the primary perforating dermatoses.

Treatment of Elastosis Perforans Serpiginosa with the Flashlamp Pulsed Dye Laser

Elastosis perforans serpiginosa (EPS) is an uncommon and chronic dermatosis characterized by the transepidermal elimination of altered elastic fibers originating in the dermis. Frequently arranged in an arcuate or serpiginous pattern, the end stage of the disease is atrophic or stellate-shaped scars. Prior therapy has primarily involved cryotherapy with liquid nitrogen which may cause scar or keloid formation. We present our experience using the flashlamp pulsed dye laser to treat EPS. A young man with Down syndrome was referred by his primary care physician for treatment of a chronic dermatosis unresponsive to topical therapy. The clinical findings were consistent with EPS, and a biopsy specimen and elastic tissue stain confirmed the diagnosis histologically. After a successful test spot, treatment was begun on the erythematous papules using a flashlamp pulsed dye laser (585 nm) with a 5 mm spot size and fluences of 6.0-7.0 J/cm2. Treated areas showed moderate to marked improvement overall. There was less erythema, thickness, and scarring in treated areas compared with active or end-stage lesions. The flashlamp pulsed dye laser may be an effective treatment method for EPS.

Elastin Peptides Induce Migration and Terminal Differentiation of Cultured Keratinocytes Via 67 kDa Elastin Receptor in Vitro: 67 kDa Elastin Receptor is Expressed in the Keratinocytes Eliminating Elastic Materials in Elastosis Perforans Serpiginosa

To delineate the molecular mechanism of transepidermal elimination of dermal elastic materials in elastosis perforans serpiginosa, the interaction between elastin and cultured keratinocytes was studied in vitro. Synthetic elastin peptide VGVAPG elicited chemotactic responses to the cultured keratinocytes at the dose of 10-9 M. Treatment of keratinocytes with 10-6 or 10-5 M elastin peptides resulted in the suppression of cell growth and the increased expression of involucrin and transglutaminase-1, markers of terminal differentiation. When cultured keratinocytes were treated with the elastin peptides, the expression of 67 kDa elastin receptor was increased. The induction of terminal differentiation by elastin peptides was attenuated by the treatment with the combination of anti-67 kDa elastin receptor antibody. The results indicate that elastin is a potent inducer of migration and terminal differentiation of cultured keratinocytes, which is mediated by the 67 kDa elastin receptor. In the lesional skins of patients with elastosis perforans serpiginosa, the 67 kDa elastin receptor was specifically expressed in the epidermis immediately surrounding the elastic materials that were being eliminated. The elastin receptor may be involved in the interaction between keratinocytes and elastin in elastosis perforans serpiginosa.