1/7. Hypohidrotic ectodermal dysplasia: a genealogic, stereomicroscope, and scanning electron microscope study.This is a report of three patients with hypohidrotic ectodermal dysplasia, or Christ-Siemens-Touraine syndrome, their genealogic backgrounds and the stereomicroscope and scanning electron microscopic appearances of the hair, the skin of their fingertips and palms as well as skin studies of members of their families. The skin morphology was recorded by means of silicone monomer rubber impressions and epoxy resin dyes. In two of the patients the disease was acquired by X-linked inheritance, while in the third, a boy, it appeared to follow an autosomal dominant pattern. Defects of the skin of the fingertips and palms of the propositi and members of the families included abnormalities of the morphology and pattern of the epidermal ridges, reduction of sweat pores varying from 13 to 87% of normal, and changed anatomy of the openings of the sweat glands. The openings were shallow and with less whorling compared to the normal, funnel-shaped sweat pores. Among the sweat pores, micropores, or openings with an average diameter of 5.3 micrometers, were observed. One of the propositi and the affected father of another had orifices on their fingertips resembling hair sheaths. Two propositi and the affected father of one exhibited grooving of the hair. The findings confirm the necessity for genealogic investigations in patients with or suspected of having the disease in order to advise parents or prospective parents. They also illustrate the usefulness of stereomicroscopy and scanning electron microscopy in observing skin and hair abnormalities.- - - - - - - - - - ranking = 1keywords = sweat gland, sweat, gland (Clic here for more details about this article) |
2/7. Absence of dermal ridge patterns: genetic heterogeneity.An apparently new form of complete absence of dermal ridge patterns was transmitted as an autosomal dominant trait through five generations in an Irish-American family. Affected individuals lacked dermatoglyphic patterns, sweat pores, and ability to sweat in the volar areas of the fingertips, palms, and soles. They also had congenital milia and blisters on the fingertips and soles at birth, abnormal nails, single transverse palmar creases, increased heat tolerance, and painful fissures in adult life around the fingernails in cold weather.- - - - - - - - - - ranking = 0.15730209951697keywords = sweat (Clic here for more details about this article) |
3/7. A case of ductal sweat gland carcinoma connected to syringocystadenoma papilliferum arising in nevus sebaceus.We report a case of a tumor arising in the preauricular region in a 50-year-old woman. The histopathological findings revealed it to be a ductal sweat gland carcinoma connected to a syringocystadenoma papilliferum (SCAP) arising in a nevus sebaceus. Mucinous stroma, considered to be deposition of hyaluronic acid, was also observed in the ductal carcinoma portion. The immunohistochemical and ultrastructural findings in the ductal carcinoma were compared with those in the SCAP. The proliferating cell nuclear antigen labeling index of the cells in the ductal carcinoma was higher than that of those in the SCAP. Both the ductal sweat gland carcinoma and SCAP showed findings compatible with the ductal segment of a sweat gland.- - - - - - - - - - ranking = 5.3483279550718keywords = sweat gland, sweat, gland (Clic here for more details about this article) |
4/7. Rapp-Hodgkin syndrome and AEC syndrome: are they the same entity?Rapp-Hodgkin syndrome and AEC syndrome are two disorders in which ectodermal dysplasia and clefting are associated. Rapp-Hodgkin syndrome is an autosomal dominant condition characterized by cleft lip and palate, peculiar craniofacial features, and ectodermal dysplasia, consisting of abnormalities of teeth, hair, nails and sweating. AEC syndrome manifests the same defects plus ankyloblepharon and a higher frequency of scalp dermatitis. A child affected by ectodermal dysplasia associated with clefting, ankyloblepharon, severe scalp dermatitis, and the characteristic Rapp-Hodgkin facies is reported. The overlap between Rapp-Hodgkin syndrome and AEC syndrome is discussed. Critical review of both disorders suggest that AEC syndrome and Rapp-Hodgkin syndrome represent the same entity.- - - - - - - - - - ranking = 0.078651049758487keywords = sweat (Clic here for more details about this article) |
5/7. Congenital absence of dermatoglyphs.Congenital absence or unusual patterns of human dermatoglyphs (fingerprints) occur in several syndromes that are rare and poorly understood. The abnormalities of dermatoglyphs fall into four categories: complete absence, ridge hypoplasia, ridge dissociation, and ridges-off-the-end. Complete congenital absence of ridges is an exceedingly rare syndrome that consists of neonatal blisters and milia, adult traumatic blistering and fissuring, absence of sweating, contracture of digits, and absence of dermatoglyphs on the hands and feet. The syndrome is inherited in an autosomal dominant pattern, and only two kindreds have been described in the literature. We describe a newly identified patient and kindred with findings similar to the previously reported cases and review the clinical and histopathologic findings of this syndrome.- - - - - - - - - - ranking = 0.078651049758487keywords = sweat (Clic here for more details about this article) |
6/7. Congenital localized skin defect and epidermolysis bullosa hereditaria letalis.epidermolysis bullosa hereditaria letalis (Herlitz) rarely appears with all the clinical characteristics originally described as belonging to the syndrome. Besides the blistering of the skin and mucous membranes in the oral cavity, the case presented showed dystrophic nails, congenital localized skin defects with hypoplasia of underlying structures and a rare but characteristic malformation of the foot of the affected extremity. No scar formation occurred before death at the age of 6 months. Histological examination of the blisters showed separation between the basement membrane and the cell membrane of the basal cells. In areas of skin defects, normal appearing hair follicles and sweat glands were seen. The relation of the syndrome to Bart's syndrome is discussed.- - - - - - - - - - ranking = 0.76404685072454keywords = sweat gland, sweat, gland (Clic here for more details about this article) |
7/7. A Japanese case of Neu-Laxova syndrome.A 5-day-old Japanese female with Neu-Laxova syndrome was presented. The patient had severe edema throughout the body, desquamation, and erosion of the skin. She also exhibited microcephaly, exophthalmos, and rocker-bottom feet. Histologic examinations of a cutaneous specimen showed atrophy of the dermis and absence of the sebaceous glands. These represent embryonic abnormalities. Even though there was no hypoplasia of the cerebellum and lungs or hydramnios, we evaluated this patient as the first Japanese case of this sporadic disease. With intensive care, including dermatological treatment, the patient survived for 134 days.- - - - - - - - - - ranking = 0.00082168035384213keywords = gland (Clic here for more details about this article) |