Penicillamine dermatopathy with lymphangiectases. A clinical, immunohistologic, and ultrastructural study.

The term penicillamine dermatopathy refers to the characteristic hemorrhagic skin lesions found in persons receiving long-term penicillamine therapy for either Wilson's disease or cystinuria. These lesions are thought to develop as a result of faulty collagen and elastin synthesis. We describe a patient with Wilson's disease who developed extensive penicillamine dermatopathy. In addition, histologic, immunochemical, and ultrastructural studies revealed multiple lymphangiectases with blood vessel to lymphatic anastomosis within these lesions, a finding not previously reported. The possible relationship to defective collagen and elastin formation are considered.

Recreationally associated Pseudomonas aeruginosa folliculitis. Report of an epidemic.

An epidemic of Pseudomonas aeruginosa folliculitis occurred in 117 persons. An indoor swimming pool at a dude ranch was the source of the infection. Recognition of the epidemic occurred through four patients who reported to our clinic with a characteristic syndrome of follicular pustular eruptions and associated symptoms. Inadequate disinfection of the water was causative. Many affected persons had prolonged contact with the organism because swimsuits were worn for several hours after exposure. Early diagnosis and epidemiological investigation are important in treating this disorder.

D-Penicillamine--induced pemphigus syndrome.

D-Penicillamine is a chelating agent which is effective in the treatment of Wilson's disease, cystinuria, and lead poisoning. In recent years, it has also been used to treat patients with rheumatoid arthritis with good results. The adverse effects of D-penicillamine are many. These include loss of taste, nephrotic syndrome, lupus erythematosus--like syndrome, polymyositis, dermatomyositis, myasthenia gravis, and agranulocytosis. Beginning in 1969, D-penicillamine was reported to induce a pemphigus eruption. We present a patient with D-penicillamine--induced pemphigus erythematosus and review previously reported cases.

Papular mucinosis. A clinicopathologic study of four patients.

Four patients with papular mucinosis were studied. Each patient had clinically characteristic cutaneous lesions, increased dermal deposition of mucin, and a serum monoclonal lgG paraprotein. One patient had sclerodermoid features consistent with the scleromyxedema variant of papular mucinosis. Associated findings in the patients included pachydermoperiostosis (one case), adenocarcinoma of the stomach (one case), carcinoma of the pancreas (one case), bizarre neurologic symptoms (one case), and emphysema (two cases). Autopsies were performed in two cases and no increased mucin deposition was observed in internal organs. Immunofluorescence microscopic study of involved skin showed no immunoreactant deposition in the three patients studied. Our observations support the hypothesis that papular mucinosis is a disorder of skin fibroblasts without internal organ involvement.

Confluent and reticulated papillomatosis of Gougerot and Carteaud. Its relation to other papillomatoses.

Confluent and reticulated papillomatosis (CRP) of Gougerot and Carteaud is the least common occurring of the papillomatoses. Its recognition as a distinct disease entity has long been questioned. Four new cases are presented, and the literature is reviewed. It is our conclusion that CRP is a definite disease entity.

Cutaneous histologic features in Ehlers-Danlos syndrome: study of 21 patients.

Skin biopsy specimens from 21 patients with Ehlers-Danlos syndrome (EDS) were compared with controls. With two exceptions, the appearance of the dermal collagen and elastic tissue as seen in the two groups was indistinguishable. One example of type 4 EDS contained a dermis composed of fibers that resembled actinically damaged elastic tissue. The single example of type 6 EDS contained particularly thin collagen fibers. The dermal thickness of specimens of EDS was similar to that of controls, although the abnormal-appearing specimen of type 4 EDS was also abnormally thin. Since the other two biopsy specimens of type 4 appeared to be within the range of normal, there may be heterogeneity in this form of EDS.

X-linked ocular albinism in Blacks. Ocular albinism cum pigmento.

X-linked ocular albinism can be an unsuspected cause of congenital nystagmus in blacks. In this study, eight of ten black ocular albinos from two kindreds had nonalbinotic, moderately pigmented fundi and no transillumination of the iris. We refer to this paradoxical condition as "ocular albinism cum pigmento." The only constant ophthalmoscopic feature was a foveal hypoplasia. Biopsy of clinically normal skin to demonstrate giant pigment granules is the most accurate means of diagnosis.

Cutaneous signs of spinal dysraphism. Report of a patient with a tail-like lipoma and review of 200 cases in the literature.

The term "spinal dysraphism" was coined in 1940 by Dr Lichtenstein to designate incomplete fusion or malformations of structures in the dorsal midline of the back, particularly congenital abnormalities of the vertebral column and spinal cord. Raphes develop on the face and head, brancheal arches, sternum, and spinal column. When dysraphism occurs in these sites, failure of closure of fontanelles, cleft lip and palate, brancheal cysts, and abnormalities of the ribs and spine result. A review of 200 cases of occult spinal dysraphism showed the condition to be more common in female patient and to be associated with cutaneous signs in more than 50% of instances. The age at which neurologic symptoms appeared in recorded cases is from birth to 76 years, the average being three years. A case of spinal dysraphism with a tail-like cutaneous structure is presented. The cutaneous manifestations accompanying spinal dysraphism that may lead to early recognition of this syndrome and early institution of treatment are discussed.

X-linked ocular albinism. An oculocutaneous macromelanosomal disorder.

Three unrelated kindreds with the Nettleship-Falls type of X-linked ocular albinism were studied. Postmortem examination of the eyes of an affected man revealed the presence of macromelanosomes in the pigment epithelia. Skin biopsy specimens of this patient, seven other affected male, and nine carrier female kindred members revealed the presence of Fontana-positive and dopa oxidase-positive macromelanosomes within the epidermis and dermis. Although clinically this disorder has been considered to be a form of albinism confined to the eyes, these findings indicate that an unusual disturbance in melanosome production characterized by macromelanosome formation affects the skin and the eyes. Histopathologic study of the skin is a useful adjunct in the diagnosis of X-linked ocular albinism, both in the affected and the carrier states. Linkage studies confirmed the close association of the Xg blood group with this disorder.