Multiple sclerosis and systemic lupus erythematosus. Occurrence in two generations of the same family.

Multiple sclerosis (MS) and systemic lupus erythematosus (SLE) have overlapping clinical features and laboratory findings. It has, in fact, been hypothesized that MS and SLE have a common etiology. Usually MS and SLE are considered to have autoimmune pathogenesis, and both are chronic diseases that can respond to steroids. Some patients are diagnosed with either MS or SLE but subsequently develop the other disease. We described a family where multiple members of one generation have SLE and two members of the preceding generation have MS. Histocompatibility typing did not reveal any association between HLA inheritance of genes and incidence of severity of disease.

Uncombable hair (pili trianguli et canaliculi): evidence for dominant inheritance with complete penetrance based on scanning electron microscopy.

Uncombable or spun-glass hair (pili trianguli et canaliculi) is an uncommon condition in which the hair is "unmanageable" and has a distinct appearance on scanning electron microscopy. The hair is usually grossly abnormal in infancy and childhood, but may become normal later in life. Although dominant inheritance has been observed, most cases have been sporadic. Both recessive and dominant transmission with incomplete penetrance have been suggested as modes of inheritance. We report the occurrence of this condition in a young girl, her brother, and her father. Although the proposita and her brother had characteristically uncombable hair, their father appeared normal and denied any history of hair abnormality. However, the characteristic hair morphology was observed on scanning electron microscopy in all 3 relatives, documenting dominant transmission and complete penetrance of the gene in this family.

Light and ultrastructural study of reactive perforating collagenosis.

In 1967, Mehregan et al described a new and distinct clinicopathologic entity that they called reactive perforating collagenosis (RPC). This rare disease is classified with a group of disorders that involve the transepithelial elimination of histochemically altered dermal tissue. In RPC, minor trauma such as an insect bite, scratch, or pilosebaceous infection alters the collagen fibers in the papillary dermis. The histochemically altered but ultrastructurally intact collagen elicits both a dermal and epithelial response. For the case presented, it is our purpose to demonstrate transepithelial elimination of collagen fibers by ultrastructural study, thereby supporting the recognized histochemical observations.

Eruptive vellus hair cysts.

Two children had a hyperpigmented monomorphous papular eruption of several years' duration. Biopsy specimens demonstrated cysts in the middle dermis that contained multiple fragmented vellus hair shafts. The eruption in one child involuted spontaneously. The cause of these lesions is obscure. The term eruptive vellus hair cysts is proposed for this entity.

Toxic epidermal necrolysis associated with allopurinol administration.

Allopurinol, now established as a standard form of therapy in hyperuricemia and gout, may be associated with life-threatening skin reactions. This study reports the occurrence of toxic epidermal necrolysis TEN) in three patients receiving Allopurinol. The patients receiving allopurinol. The patients had complicated medical illnesses and were receiving various other medications, but the most apparent common denominator was allopurinol ingestion. Two other cases of TEN and five cases of severe hypersensitivity reactions with vasculitis and extensive skin manifestations, secondary to this drug, have been described in the recent literature. Allopurinol has several unique biochemical and metabolic properties that may increase its ability to cause hypersensitivity or toxic skin reactions.

Congenital poikiloderma with features of hereditary acrokeratotic poikiloderma.

An adolescent boy with a bizarre progressive poikiloderma had episodic acral blistering and the development of palmar and plantar keratosis suggestive of hereditary acrokeratotic poikiloderma. Growth and development had been normal. Vesicobullous lesions were said to be present at birth and during early infancy. No family members were similarly affected. Results of laboratory studies were normal. Histological sections of skin demonstrated epidermal atrophy in some areas, increased epidermal melanin fibrosis of the papillary dermis, and modest capillary proliferation.

Chondrodysplasia punctata. Conradi-Hünermann syndrome.

A 10-day-old girl was examined because of a peculiar, patterned hyperkeratosis that was noted at birth. The lesions were distributed over the trunk and limbs and consisted of whorls and streaks of thick, yellow, adherent scales. The salient histologic feature was marked hyperkeratosis with deep invagination of the dilated pilosebaceous ostia nearly to the level of the hair bulb. Additional physical abnormalities included patchy alopecia, bilateral zonular cataracts, a depressed nasal bridge, small stature, and multiple skeletal deformities. Roentgenograms demonstrated widespread stippled epiphyses characteristic of Conradi-Hünermann syndrome.

Necrobiotic xanthogranuloma with paraproteinemia.

Necrobiotic xanthogranuloma with paraproteinemia is a distinct clinicopathologic entity defined by skin lesions that are characteristic both clinically and histologically, as well as a by variety of hematologic and chemical abnormalities. It is frequently associated with multiple myeloma or chronic lymphocytic leukemia. A patient with the characteristic findings but with an unusual course is described.

Xanthomatosis resembling scleroderma in multiple myeloma.

A patient with multiple myeloma had severe cutaneous and gastrointestinal xanthomatization and symptoms characteristic of systemic sclerosis. Clinical findings included thickened sclerotic skin, dysphagia associated with an akinetic esophagus, and abnormal findings on roentgenograms of the upper and lower gastrointestinal tract. Biopsy specimens obtained from the skin and the gastrointestinal tract studied by light and electron microscopy showed thickening, hyalinization, and xanthomatization of the subepithelial connective tissue. Macrophages containing lipid vacuoles were shown to assume a perivascular orientation on ultrastructural study. Our case appears to be unique since this combination of findings has not been reported previuosly. In addition, our electron micrographs may help to define better the pathogenetic process involved in the association between myeloma and plane xanthomata.

Biopsy in vesicobullous disorders.

Through actual case illustration, I have tried to present the way biopsy of a vesicobullous lesion would be approached by the dermatopathologist. I did not intend this article to be a comprehensive review and, because of the limitation of space, have ommited the more unusual bullous dermatoses. Comprehensive reviews of the role of immunofluorescence in vesicobullous disorders can be found in the Archives of Dermatology and Progress in Dermatology.

Bowen's disease of the umbilicus simulating psoriasis vulgaris.

Bowen's disease and other primary cutaneous malignancies are uncommon in patients with psoriasis. Primary malignancies of the umbilicus are also unusual. Plaques of psoriasis and Bowen's disease may appear morphologically similar, requiring examination of a biopsy specimen for definitive diagnosis. We report on a patient with psoriasis who experienced Bowen's disease of the umbilicus that was initially believed to be psoriasis.

Toxic epidermal necrolysis following bone marrow transplantation.

Toxic epidermal necrolysis (TEN) has been reported following bone marrow transplantation. This rare and unfortunate complication may portend fatal outcome. We report on a patient with an allogeneic bone marrow transplant and graft-versus-host disease (GVHD) in whom TEN subsequently developed. In contrast to a previously reported case, our patient survived and is well two years after bone marrow engraftment.