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Atrichia with papular lesions (APL) (OMIM 209500) is a hereditary form of alopecia. Hair loss occurs soon after birth and is followed years later by the development of a diffuse papular eruption. Its mode of transmission is still uncertain. A related but clinically distinct form of alopecia, known as alopecia universalis (OMIM 203655), has recently been found to be associated with a mutation in the human hairless gene. The present report describes the largest consanguineous kindred of APL reported to date and provides strong evidence for autosomal recessive inheritance of this rare disorder. On the basis of a linkage analysis of this kindred using six microsatellite markers spanning the human hairless gene region, we found that the APL locus maps to chromosome region 8p12 in a 5 cM interval between marker D8S560 and marker D8S1739. A maximum lodscore of 3.7 was obtained with marker D8S1786, at a recombination fraction of 0. Our results suggest phenotypic variability at the hairless locus although they do not rule out the existence of a gene cluster associated with hair disorders in the same region.

Background: Diabetic dermopathy is the most common cutaneous marker of diabetes mellitus. The relationship of diabetic dermopathy to internal complications of diabetes mellitus, such as nephropathy, retinopathy, and neuropathy, is still unknown., Methods: The possible role of diabetic dermopathy as a clinical sign of internal complications in diabetes mellitus was investigated. One hundred and seventy-three patients with diabetes mellitus, of whom 125 (72%) had insulin-dependent diabetes mellitus and 48 (28%) had non-insulin-dependent diabetes mellitus, were studied., Results: Diabetic dermopathy was present in 69 (40%) of patients, statistically more significant in patients 50 years of age and older. The mean diabetic duration was significantly higher in patients with diabetic dermopathy than in those without. The associations of diabetic dermopathy with retinopathy, nephropathy, and neuropathy were each statistically significant, and the increased frequency of diabetic dermopathy correlated with an increased number of these three complications in each patient., Conclusions: Some of the factors that affect the development of internal complications in diabetes mellitus may play a role in the development of diabetic dermopathy, and diabetic dermopathy may serve as a clinical sign of an increased likelihood of these internal complications in diabetic patients.

Mucinous syringometaplasia (MS) is an unusual skin lesion of unknown etiology, characterized histologically by epidermal invaginations lined by mucin-laden goblet-like cells and by nonkeratinized squamous cells. The present case study was performed to elucidate further the characteristics of this lesion using immunohistochemistry and electron microscopy. The mucin-laden cells in the MS lesion stained positively for carcinoembryonic antigen, epithelial membrane antigen, and low molecular weight keratins. The ultrastructural examination, which was performed on deparaffined sections, revealed two morphological variants of mucous granules. Electron-dense mucous granules predominated in the mucus-containing cells, which were situated among the keratinocytes adjacent to the epidermal invaginations, mostly in the lower parts of the epidermis. Larger, electron-lucent granules containing flocculent material were found more abundantly in the cells lining the epidermal invaginations. Also, some of the mucus-containing cells showed bundles of tonofilaments; structures that appeared to be isolated short, stubby microvilli; and attachments to adjacent mucus-containing cells and keratinocytes by desmosomes. The ultrastructural and immunohistochemical findings in our case suggest that the mucinous changes occurred as a metaplastic process in the resident epidermal cells and were accompanied by changes in cellular antigen expression resembling those of simple secretory epithelium.

One hundred patients with viral warts and 108 apparently healthy matched controls were typed for HLA-A and B antigens. No significant difference in the frequencies of antigens was revealed, which suggested that a possible genetic trend in warts is at least not related to A and B loci of the histocompatibility system.

Thirteen patients with localized granuloma annulare and 19 with the generalized form of the disease were typed for HLA antigens. The control group consisted of 70 matched apparently healthy subjects. No significant difference in the frequencies of the 26 tested antigens was revealed between patients with localized granuloma annulare and controls. Patients with the generalized form of the disease showed a highly significant increase in the frequency of HLA-Bw35 as compared with both controls and patients with the localized form of the disorder (P = 0.001 and 0.01 respectively). The results seem suggestive of a possible different pathogenesis of the two forms of the disease.

The dermal changes in four cases of generalized granuloma annulare (GGA) and in four of localized granuloma annulare (LGA) were studied ultrastructurally, and the findings in the two groups were compared. The basic alterations were similar in both types, and showed varied stages of development. The cellular infiltrate was composed mostly of histiocytes. Cell debris was found in all lesions. The degenerative changes affected the collagen fibers, the elastic fibers, and the cellular infiltrate. Of special interest are the following findings in GGA: First, masses of intercellular fibrin material were seen only in the lesions of GGA. Second, thick and multilayered basal lamina around capillaries was apparently more common in the generalized form. These changes may suggest that a more pronounced immune reaction is responsible for the development of the generalized form of the disease.

HLA-A and -B antigen frequencies were studied in 78 patients, 35 with localized granuloma annulare and 43 with generalized granuloma annulare (GA). Twenty-eight patients in each group were also typed for HLA-DR antigens. A group of 200 healthy age-matched subjects served as controls. HLA-A31 and B35 were increased significantly in patients with generalized GA, but not in the localized form. HLA-DR antigen distribution showed no significant variation.

We have reviewed the morphologic findings in 41 histologic slides of granuloma annulare (GA), 15 from localized (LGA) and 26 from generalized granuloma annulare (GGA). The most common pattern was the histiocytic infiltrative type, more so in cases with LGA than with GGA. The palisading granuloma pattern was present in 21.9% of patients and its prevalence was almost equal in both clinical types. The least prevalent histologic type in all patients taken together was the epithelioid nodule type. However, the prevalence of this type in LGA was equal to that of the palisading type, in contrast to that in GGA where it accounted for only 11.5%. In addition, a mixed histologic pattern was found in greater than 25% of sections from GGA and in only one section from LGA. Periodic acid-Schiff stain revealed hyalinized capillary basement membrane in most of GGA and only in approximately 50% of LGA sections. The variation in prevalence of the different histologic patterns between sections from LGA and GGA, and the difference between our findings and those observed in other series, are discussed.

A patient with a cyclic premenstrual eruption, clearing spontaneously with the menstrual flow, is reported. Hypersensitivity to endogenous progesterone in this case was confirmed by positive intradermal and leukocyte migration inhibition tests. Treatment with conjugated estrogens was followed by remission of symptoms. The importance of awareness to the possibility of progesterone autoimmune mechanisms is emphasized.

The histological picture in granuloma annulare (GA) is well defined. The types of infiltrate and the changes in collagen and elastic tissue have been repeatedly described. This is a preliminary study focused on the elastic tissue changes in lesions of generalized GA. Biopsies from four patients were studied. Specimens of involved and uninvolved skin from both exposed and unexposed parts of the body were compared. Changes of actinic elastosis in the papillary dermis in each patient in different stages were observed only in the exposed skin. The typical GA infiltrate was located beneath, in the upper mid-dermis. In the zone of the infiltrate in all specimens--exposed and unexposed--with no regard to the severity of actinic elastotic changes, absence or a marked reduction of elastic material was noted with engulfment of elastic remnants in giant cells. Giant cells with phagocytosis of elastotic material were mostly located on the periphery of the granuloma in the upper as well as in the deeper portion, where elastic fibers were still present. This might support the suggestion that degenerating elastic fibers promote the granulomatous reaction that leads to the formation of granuloma annulare.