Familial cutaneous collagenoma is an inherited condition characterized by the presence of multiple dermal nodules symmetrically distributed on the trunk and upper arms. In this study, six patients, the proband, his four siblings and a niece, representing a kindred of fifty-two subjects, were examined for aymptomatic cutaneous nodules mainly on the back and chest. The individual lesions varying from a few millimetres to several centimetres in size, were indurated, and showed minimal epidermal changes. Histologically, the nodules were characterized by an excessive accumulation of dense, coarse collagen fibres in the dermis. The elastic fibres appeared diminished in number, and in some areas they were abnormally thin and fragmented. The lesions, therefore, were connective tissue naevi of the collagen type. On the basis of the family history and histological observations the patients were diagnosed as having familial cutaneous collagenoma. Examination of the family pedigree indicated that the dermal nodules in familial cutaneous collagenoma were inherited in an autosomal dominant pattern. It was also observed that the lesions had an onset at the age of 15 to 19 years, and their number increased significantly during pregnancy. It is conceivable that familial cutaneous collagenoma is an inherited condition whose expression may be under a hormonal control.

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Tissue and cultured fibroblasts derived from one patient with the classical findings of lipoid proteinosis have been used to examine pathologic mechanisms in the disease. Ultrastructural examination of the skin revealed not only extracellular deposits of finely granular, moderately electron dense material, but in addition the dermal fibroblasts characteristically demonstrated marked cytoplasmic vacuolization. Phase contrast microscopy of the cultured skin fibroblasts also showed strikingly abnormal cells with many inclusions, which by electron microscopy were delimited by a single membrane. Membranous lamellar material was also increased in these cells. Biochemical analysis of the fibroblasts revealed a 3- to 4-fold elevation in intracellular hexuronic acid. These morphologic and biochemical findings suggest certain similarities with known storage diseases and support the postulate that lipoid proteinosis may represent a lysosomal storage disease.

Seven cases of classical discoid lupus erythematosus of the face associated with hyperkeratotic, papulo-nodular lesions on the arms and hands were studied. Clinically the hyperkeratotic lesions resembled keratoacanthomas or hypertrophic lichen planus. The clinical course was marked by chronicity, an absence regression of the lesions, and resistance to treatment. Histopathologically, a lichenoid cellular reaction seemed to play a key role in the development of the hypertrophic lesions which resembled either keratoacanthomoas or hypertrophic lichen planus. Elastic fibres were prominent in the upper dermis, the lower levels of the epidermis and in the hyperkeratotic horny layer. Immunofluorescence of the papulo-nodular lesions demonstrated the deposition of IgG and IgM in a globular pattern at the dermal-epidermal junction. Discontinuous deposition of these antibodies was also seen at the basement membrane zone. On the basis of the immunofluorescence, histopathological and clinical studies, we suggest that the verrucous, hyperkeratotic lesions on the upper extremities represent an unusual, but distinct, form of discoid lupus erythematosus.

Only twenty-seven cases of primary mucinous carcinoma of the skin have been reported. Three additional cases are included in this paper. The clinical presentation is distinctive; they are found most commonly in middle-aged, black males in the head and neck region as painless nodules, usually less than 3 cm in diameter. Previous reports have indicated the probable sweat gland origin of these tumours; one of our cases demonstrates a transition from a solid hidradenoma-like pattern to nests of tumour cells floating in mucin lakes, adding support for the sweat gland hypothesis. The clinical behaviour is relatively benign; late recurrences are common but metastases are rare. Only one case had widespread metastases. Although the histological appearance is distinctive, other primary sites first must be excluded. Local excision is the treatment of choice.