Acquired perforating dermatosis of diabetes mellitus and renal failure: Further ultrastructural clues to its pathogenesis

An ultrastructural study of a typical case of acquired perforating dermatosis in a patient with renal failure and diabetes mellitus is reported. Crystal-like microdeposits of an electron-lucid material were detected in the upper dermis, close to the transepidermal channel. Compact macrophage conglomerations surrounded the deposits, and a strong histiocytic response was present. Mononuclear inflammatory cells of "activated". type penetrated the acanthotie epidermis provoking basement membrane dissolution and widening of interkeratinocyte spaces. Collagen fibers were seen in the keratotic plug, indicating the process of transepidermal elimination. Our observation supports the hypothesis suggesting that some kind of storage phenomenon may be at the origin of perforating skin lesions in renal failure patients.     

Acquired perforating dermatosis. Transepidermal elimination of DNA material and possible role of leukocytes in pathogenesis

A patient had acquired perforating dermatosis and suffered from renal disease, diabetes mellitus, and lupus vulgaris. Histologic and immunohistochemical studies revealed that the bulk of the coarse granular basophilic material being extruded by transepidermal elimination was of nuclear origin obviously derived from polymorphonuclear leukocytes that were particularly abundant in an early, nonperforated lesion. At the lower boundary of the material being eliminated transepidermally, leukocytes were seen to accumulate, to undergo pyknosis and karyorrhexis, and to transform into nuclear debris. As a minor component, the material contained collagen fibers with altered staining qualities and, in an early lesion, elastic fibers. We speculate that accumulation, disintegration, and enzyme release from polymorphonuclear leukocytes may represent an important, hitherto disregarded driving force in transepidermal elimination. Lysosomal enzymes may later be responsible for the alteration of staining properties in collagen fibers, the degradation of elastic fibers, and for opening up the transepidermal route by impairing intercellular keratinocyte cohesion.     

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

—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.     

Reactive Perforating Collagenosis and Acquired Perforating Dermatosis: Presentation of Two Cases

Two rare cases of patients suffering from diabetes mellitus and skin lesions with histological transepidermal elimination are presented. The clinical and histological findings confirmed the diagnoses of reactive perforating collagenosis and acquired perforating dermatosis. The relationship between the two entities and their pathogenesis are discussed.     

Elastosis perforans serpiginosa in a patient with Down's syndrome

Elastosis perforans serpiginosa is a rare, primary perforating dermatosis, frequently associated with certain genetic diseases and characterized by the transepidermal extrusion of elastic fibers. The present case report describes this dermatosis in a 19-year old female patient with Down's syndrome, who presented with asymptomatic erythematous, keratotic papules in an arciform pattern, located on her right forearm and knee, which had been present for five years. Following histopathological confirmation, treatment with cryotherapy was initiated, resulting in partial remission of the lesions.     

Clinical practice guide for the treatment of perforating dermatosis

Perforating dermatoses are a heterogeneous skin disease group defined by transepidermal elimination of various skin materials. Four classical forms of primary perforating dermatosis have been described, where the transepidermal elimination mechanism represents the hallmark of the disease: acquired reactive perforating collagenosis, elastosis perforans serpiginosa, Kyrle’s disease and perforating folliculitis. Acquired reactive perforating collagenosis presents with transepidermal elimination of collagen fibers. Elastosis perforans serpiginosum presents with the elimination of elastic fibers. Kyrle’s disease presents with transepidermal elimination of abnormal keratin. In perforating folliculitis, it is the content of the follicle. We established diagnostic criteria and severity classification. In addition, the Japanese guideline for treatment of perforating dermatoses was updated using the Medical Information Network Distribution Service (MINDS) methodology. The guideline is based on a systematic published work review completed from 1989 to 2019, and on a formal consensus and approval process. Most medical published work on the treatment is limited to individual case reports and small series of patients. The guideline covers treatment options considered relevant by the expert panel and approved in Japan at the time of the consensus conference.     

Acquired reactive perforating collagenosis: Current status

Acquired reactive perforating collagenosis is a unique perforating dermatosis, characterized clinically by umbilicated hyperkeratotic papules or nodules and histologically by a focal hyperkeratosis in direct contact with transepidermal perforating dermal collagen. Several inflammatory or malignant systemic diseases may coexist with acquired reactive perforating collagenosis. The possible biochemical or immunological mechanisms of the systemic diseases, potentially responsible for the development and appearance of acquired reactive perforating collagenosis, are still under investigation. Several topical treatments, ultraviolet B phototherapy and allopurinol p.o. administration may be effective.     

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

BACKGROUND: 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. OBJECTIVES: To determine whether the 67-kDa elastin receptor is involved in other perforating diseases. METHODS: 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. RESULTS: 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. CONCLUSIONS: 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.     

Dermatosis perforante adquirida: presentación de 8 casos

Acquired perforating dermatosis (APD) is an uncommon disease characterized by lesions exhibiting transepidermal elimination of collagen or elastic fibers. APD affects adults and is associated with systemic diseases, mainly diabetes mellitus and renal failure.We present 8 cases of APD. Seven patients had concomitant diabetes mellitus with or without chronic renal failure, and 1 had alcoholic cirrhosis. In the patients with chronic renal failure, the onset of APD coincided with transient worsening of renal function. The mean increase in creatinine concentrations above baseline was 1.14 mg/dL. Acute deterioration of renal function may be involved in APD. Further studies are needed to investigate this association.     

Acquired perforating dermatosis successfully treated with photodynamic therapy

Acquired perforating dermatosis is a rare perforating skin disorder characterized by intensely pruritic papules or nodules with central adherent plugs mainly observed on the lower extremities and transepidermal elimination of collagen bundles. Treatment of acquired perforating dermatosis is a matter of debate and conventional treatment options including topical and systemic retinoids, topical corticosteroids and keratolytics, ultraviolet B phototherapy, psoralen plus ultraviolet A (PUVA), allopurinol and cryosurgery show mixed results. Herein, we describe a 60-year-old woman with a diagnosis of acquired perforating dermatosis secondary to diabetes mellitus in whom we achieved excellent results with photodynamic treatment. As far as we are aware, this is the first case report of photodynamic treatment for acquired perforating dermatosis.     

Penicillamine-induced Elastosis Perforans Serpiginosa and Cutis Laxa in a Patient with Wilson's Disease

Elastosis perforans serpiginosa (EPS) is a rare reactive perforating dermatosis that is characterized by the transepidermal elimination of abnormal elastic fibers. Penicillamine, which is one of the clear triggers for EPS, is a heavy metal chelator that is primarily used for disorders such as cystinuria and Wilson''s disease. It may cause alterations in the dermal elastic tissue such as pseudo-pseudoxanthoma elasticum, acquired cutis laxa, EPS and anetoderma. Herein we present a case of cutis laxa and EPS in a 34-year-old man who was previously on a long-term, high-dose of penicillamine for Wilson''s disease. The combination of EPS and cutis laxa induced by penicillamine has rarely been reported and we report the first such case in Korea.     

Poikiloderma-like lesions on the neck in atopic dermatitis: a histopathological study

Reticulate pigmentation with or without skin atrophy, depigmentation and telangiectasia is frequently encountered on the neck of severe cases of adult type atopic dermatitis. These skin changes were graded clinically into 3 stages. Based on histological features, hyperplasia of the sebaceous gland, dilated tortuous capillaries, and mild degeneration of elastic fibers were noted in stage I lesions. Lesions of both stages II and III contained increased melanin in the basal cell layer with incontinence of pigment, remarkable destruction and degeneration of elastic fibers, proliferated and dilated capillaries, and deposition of mucinous substances. The numbers of mast cells in papillary dermis were significantly increased in late stage I and stage II lesions. Poikiloderma-like lesions on the neck could be attributable to chronic inflammation and delay of wound healing process, possibly caused by long-standing topical corticosteroid therapy.     

Case for diagnosis. Hyperpigmented and excoriated papules and nodules in a diabetic patient

Reactive perforating collagenosis is a rare perforating dermatosis clinically characterized by intensely pruritic hyperpigmented papules, plaques, and nodules with a central keratotic plug. Histopathology reveals transepidermal elimination of collagen fibers. Its pathophysiology is still under investigation, but the acquired form has been linked to systemic conditions such as diabetes mellitus and chronic kidney disease. However, it has also been described as a paraneoplastic syndrome. The authors present the case of a 65-year-old diabetic patient in which a myeloproliferative neoplasm was suspected.     

Acquired perforating calcific collagenosis after topical calcium chloride exposure

A 24‐year‐old healthy man presented with a 6‐week history of numerous umbilicated coalescing erythematous papules with some scale and crust on his anterior medial thighs. The eruption began 1 to 2 weeks after he spilled calcium chloride rock salts on his pants while salting the sidewalk during a snow storm. The salts dissolved and remained in contact with his skin for at least 4 hours until he was able to change clothes. A skin biopsy shows thick and thin collagen fibers with partial calcification in the papillary and upper reticular dermis associated with a sparse infiltrate of neutrophils, lymphocytes and mononuclear histiocytes. There are foci of transepidermal elimination of calcified fibers with adjacent epidermal hyperplasia and ortho‐ and parakeratosis. Von Kossa stain highlights calcification of the fibers, and trichrome stain confirms the fibers are collagen. A Verhoeff‐van Gieson stain shows no abnormality of elastic fibers. The patient was treated with topical betametasone diproprionate cream twice daily for 3 weeks, as well as a short course of oral levofloxacin and topical gentamicin cream. The lesions resolved over 3 weeks with residual scarring. We report a unique case of acquired perforating calcific collagenosis secondary to topical calcium chloride exposure. Patel RR, Zirvi M, Walters RF, Kamino H. Acquired perforating calcific collagenosis after topical calcium chloride exposure.     

Acquired perforating dermatosis: comparison of an acquired perforating dermatosis and perforation as an incidental histologic finding

A 66-year-old Japanese woman with a rare acquired perforating disorder, usually called adult-type reactive perforating collagenosis, is reported. The patient had poorly controlled diabetes mellitus with retinopathy under oral diabetic medication. She was found to have multiple papules and umbilicated nodules on the trunk and four extremities when she was admitted and examined for the origin of jaundice and severe pruritus of sudden onset. In the biopsy specimen, collagen fibers were observed to be eliminated from the dermis through epidermal tunnel-like perforations. No elastic fibers were eliminated, and serial sectioning of the specimen could not prove follicular perforation. Adenocarcinoma of the biliary duct was found to be the cause of the jaundice with pruritus. Although such cases are usually classified as acquired reactive perforating collagenosis of adult onset, proposed reclassification for acquired perforating disorders is discussed. Another case which also showed perforation and transepithelial elimination of both collagen and elastic fibers as an incidental histologic finding is described. Such elimination seems to be a not uncommon step in the formation of pruriginous eruptions. Therefore, these cases should be differentiated from acquired-type characteristic perforating disorders.     

A case of verrucous perforating collagenoma in a toddler

Verrucous perforating collagenoma is an extremely rare variant of acquired perforating dermatosis that has been seldom described in literature. We present the case of an 18‐month‐old boy who presented with an erythematous plaque with a central keratotic plug on the leg. Histopathology revealed transepidermal elimination of collagen, consistent with a diagnosis of verrucous perforating collagenoma.     

Linear angeordnete Ulzerationen mit zentralem Pfropf

Reactive perforating dermatosis (RPD) is a primary perforating dermatosis. Histologically, it presents with transepidermal discharge of basophile material and vertical arrangement of collagen fibers. RPD is treated using external keratolytic agents, topical and systemic glucocorticosteroids, retinoids and antihistamines. Good results have also been reported using photo(chemo)therapy. In the case study presented here, the patient responded very well to treatment with allopurinol.     

获得性反应性穿通性胶原病1例

患者男,50岁,躯干、四肢丘疹、结节伴痒6个月,加重半月。皮肤科情况:躯干、四肢多发绿豆至黄豆大小红丘疹,表面抓痕、结痂,双肘部散在、暗红色蚕豆大小结节,中等硬度,大部顶端见溃疡,中央有脐凹;皮损组织病理示:HE染色见杯状下陷表皮,内含大量破碎角质、中性粒细胞及变性胶原纤维,见断裂、卷曲的胶原纤维束垂直从表皮穿过;真皮浅层见中性粒细胞、淋巴细胞浸润。Masson染色可见蓝染破碎、变性胶原纤维穿出表皮,穿透部位弹力纤维染色阴性。诊断:获得性反应性穿通性胶原病。     

Linear ulcers with central keratinous plug

Reactive perforating dermatosis (RPD) is a primary perforating dermatosis. Histologically, it presents with transepidermal discharge of basophile material and vertical arrangement of collagen fibers. RPD is treated using external keratolytic agents, topical and systemic glucocorticosteroids, retinoids and antihistamines. Good results have also been reported using photo(chemo)therapy. In the case study presented here, the patient responded very well to treatment with allopurinol.     

Elastosis perforans serpiginosa in an adult with Down''s syndrome: report of a case with symmetrical localized involvement

Elastosis perforans serpiginosa (EPS) is a rare perforating dermatosis in which elastic fibers extrude from the papillary dermis producing umbilicated papules, characteristically arranged to form arciform or serpiginous patterns on the skin. It can be observed in patients with Down's syndrome, in whom in some cases the disease has been reported to be more widespread and to run a longer course. We present the case of a 20-year-old girl with Down's syndrome, hypothyroidism, acne and hypertrichosis, who had a 2-year history of multiple atrophic lesions with an arciform pattern on the distal extensor portions of both thighs, histologically showing the typical features of EPS.