Mucinous eccrine naevus: case report and review of the literature.

Mucinous eccrine naevus (MEN) is an extremely rare variant of eccrine naevus. There are only nine reported cases in the English literature. We report a 3-month-old boy with a congenital lesion on the lower back, and review the other cases in the literature. In most cases, MEN presents before puberty. The commonest presentation is a unilateral, solitary, brownish nodule without hyperhidrosis occurring on the legs. The diagnosis of this condition is confirmed by the characteristic histopathological features. Treatment options may be considered if symptomatic.

Clear cell acanthoma.

Clear cell acanthoma (CCA), is an asymptomatic benign lesion of unknown origin and aetiology, which typically presents as a red to brown, dome-shaped papule on the leg. We discuss the case of a patient with an irregular plaque of hypopigmented papules whose diagnosis of CCA was only made by biopsy, and review the characteristic presentation, uncommon variants, locations and associated conditions of this lesion. The diagnosis is based on histopathology and/or immunohistochemistry, but the variable clinical presentation may make diagnosis difficult. The differential diagnosis includes skin tumours and inflammatory and pigmentary dermatoses. The lesions do not regress spontaneously, and excisional removal is the preferred treatment.

Cantharidin revisited: a blistering defense of an ancient medicine.

Cantharidin, a vesicant produced by beetles in the order Coleoptera, has a long history in both folk and traditional medicine. In dermatology, topical cantharidin has long been used to treat warts and molluscum. In 1962, cantharidin lost Food and Drug Administration (FDA) approval owing to the failure of its manufacturers to submit data attesting to cantharidin's efficacy. However, it is expected that the FDA will soon include cantharidin on its "Bulk Substances List," which would permit physicians or pharmacists to compound cantharidin to be used in the office for individual patients. A comprehensive discussion of the origins, folk uses, current FDA status, current dermatologic uses, and effects of cantharidin poisoning has been compiled herein. No cases of systemic intoxication or scarring have been reported with the proper use of cantharidin by a physician. Cantharidin is a safe and valuable medication and should be readded to the dermatologic therapeutic armamentarium.

Herlitz junctional epidermolysis bullosa presenting at birth with anonychia: a case report and review of H-JEB.

A 15-day-old Yemeni boy presented with anonychia and granulomatous nail beds and white patches in the mouth. Biopsy specimens from the nail beds were nondiagnostic. Shortly thereafter the child developed multiple tense bullae, a hoarse voice, and poor appetite. Hematoxylin and eosin staining along with monoclonal antibody studies of a skin biopsy specimen revealed subepidermal bullae through the lamina lucida and a marked decrease in laminin 5. A diagnosis of junctional epidermolysis bullosa Herlitz variant was made. His course was complicated by multiple nonhealing wounds, oral pharyngeal involvement, sepsis, anemia, and poor nutrition, leading to his eventual death. This report emphasizes the unusual presentation of Herlitz junctional epidermolysis bullosa with anonychia as the initial finding and a relatively prolonged period before cutaneous blister formation, resulting in delay of diagnosis.

Treatment of severe congenital erythropoietic porphyria by bone marrow transplantation.

Congenital erythropoietic porphyria (CEP), which is the result of a deficiency of uroporphyrinogen (URO) III synthase activity, is the most disfiguring porphyria in humans. Various methods of treatment have been used to treat CEP with varying success, including erythrocyte transfusion, hydroxyurea, and splenectomy. The only treatment that corrects the enzymatic defect resulting in a cure is bone marrow/stem cell transplantation, which has been reported previously in only 5 patients worldwide. We describe the first patient with CEP who underwent successful bone marrow transplantation performed in the United States and review the therapeutic options in the management of this challenging type of porphyria.

Acral peeling skin syndrome.

Peeling skin syndrome is a rare autosomal recessive disease characterized by widespread painless peeling of the skin in superficial sheets. We describe a 34-year-old man with a lifelong history of spontaneous asymptomatic peeling skin limited to the acral surfaces. This patient probably represents a localized variant of peeling skin syndrome, which has previously been described as a generalized condition. Light and electron microscopic studies of biopsy specimens taken before and after immersion in water were performed. It was concluded that this patient has abnormal keratohyalin granules and inadequate aggregation of keratin filaments that caused the separation of the epidermis in the stratum corneum through the clear zone. Alternatively, unknown keratin species expressed in the clear zone may also cause the abnormality. (J Am Acad Dermatol 2000;43:1112-9.).

Topical tretinoin and 5-fluorouracil in the treatment of linear verrucous epidermal nevus.

Treatment of a linear verrucous epidermal nevus using topical 0.1% tretinoin cream and 5% 5-fluorouracil in a young patient is described. In 1994, successful topical therapy using this combination was described in the management of an inflammatory linear verrucous epidermal nevus. We report another case in which treatment of a noninflamed epidermal verrucous nevus with 0.1% tretinoin and 5% 5-fluorouracil resulted in significant improvement. An updated summary of the literature discussing management of epidermal nevi is presented.

Generalized atrophic benign epidermolysis bullosa: a case of severe hemidesmosomal deficiency.

A case of generalized atrophic benign epidermolysis bullosa was followed from birth to 14 years of age. Electron microscopy of the blistered skin showed either the absence or greatly reduced hemidesmosomes of a very poorly developed type. In perilesional skin, the frequency of hemidesmosomes was 1/3 to 1/2 of the normal controls. These hemidesmosomes were small and lacked normal ultrastructures. Anchoring filaments did not cluster underneath them, and the anchoring fibrils were also diminished. In view of the published data correlating the genotype to the phenotype, this patient seems to have a homozygous nonsense mutation of the COL17A1 gene encoding collagen XVII. An accumulation of data may eventually enable electron microscopists to estimate the types of gene mutation.

Congenital CD34-positive granular cell dendrocytosis.

Granular cell tumors involving the skin are mostly acquired lesions. The Schwann cell origin of these lesions is supported by positive immunostaining for S-100 protein and myelin basic protein. S-100- granular cell lesions rarely have been described in association with fibrous papules or dermatofibromas. The congenital variety of S-100- granular cell tumors occurs almost exclusively in the gingiva. The cell origin of these lesions is not well delineated. We report a hitherto undescribed case of a congenital cutaneous lesion which is histologically characterized by diffuse dermal infiltrates of S-100- but CD34+ granular dermal dendrocytes. The granular appearance of these CD34+ dendrocytes is attributed to an abundance of phagolysosomes. The pathogenetic mechanism of this unusual lesion remains to be elucidated.

Congenital ichthyosiform erythroderma: particulate staining pattern of TGK.

A case of late onset non-bullous congenital ichthyosiform erythroderma (CIE) was studied. This patient was not born as a collodion baby and did not have skin abnormalities until 9-10 years of age. She gradually developed erythroderma and fine scales, callosities of her feet, and a mild ectropion. Since recent work has revealed that in the majority of CIE patients, transglutaminase (TGK) is distributed in the cytoplasm of granular cells and horny cells (11), TGK was studied in our case. It was found that TGK was distributed along the cell periphery of horny cells and also in the cytoplasm of granular cells. In the control skins, TGK was stained along the cell periphery of horny cells and granular cells. The marginal band formation was normal. Involucrine and loricrin, the building materials of the marginal band whose-cross-linking is mediated by TGK, were normally stained in the upper epidermis. Cytoplasmic TGK of granular cells and normal development of the marginal band may serve as a helpful diagnostic marker of CIE, particularly because the often confusing collodion baby of lamellar ichthyosis may lack TGK staining and the marginal band altogether.

Netherton syndrome presenting as congenital psoriasis.

A white boy had erythroderma and dense scale at birth. By 3 months the scale had localized to scalp, diaper area, and acral surfaces. Two biopsy specimens were read as psoriasiform dermatitis at 1 and 3 months. It was not until he was 10 months of age, when terminal hairs grew with nodose irregularities (trichorrhexis invaginatum), that the correct diagnosis of Netherton syndrome was made.

Perineal skin injury: extrinsic environmental risk factors.

Little research has been performed to evaluate factors that may exacerbate perineal skin injury in the adult population. But extensive research has been done and knowledge has been gained from studies with diaper dermatitis in infants. Our objectives in writing this article are to define the anatomical area affected, the terms used, and to review the available literature for diaper dermatitis in infants, elucidating the similarities and differences between diaper dermatitis in infants and perineal dermatitis in adults. The six extrinsic environmental factors that have been identified and extensively studied in diaper dermatitis are skin wetness, urine, ammonia, feces, local skin pH and microorganisms. Although the complex interactions of the six factors are still not totally defined, we do know that to prevent perineal skin injury, it is helpful to prevent excessive skin hydration, minimize the interaction of urine and feces, minimize local microorganisms, and maintain skin near its physiologic pH. In general, the six extrinsic factors can be extrapolated and applied to the care of adults. Further research in adult fecal enzymes and pH is still necessary.