1/13. Hereditary hypodontia and onychorrhexis of the fingernails and toenail koilonychia: Witkop's tooth-and nail syndrome.The tooth-and-nail syndrome (Witkop's syndrome) is a rare autosomal dominant ectodermal dysplasia manifest by defects of the nail plates of the fingers and toes and hypodontia with normal hair and sweat gland function. We report a thirteen year-old girl who presented with marked longitudinal ridging of the nail plates of all ten fingers. The toenails were mildly ridged with koilonychia. Her mother's fingers were similarly affected to a lesser degree while her toenails appeared normal. Examination of the child's dentition revealed a hyperplastic frenulum and the absence of one of the usual four mandibular incisors. history provided by the mother described the maternal grandmother and maternal great aunt as having identical nail findings and the presence of only three lower incisors. hair examination was normal in the mother and child, and no history or findings of sweat gland dysfunction was present. This report describes familial hypodontia, fingernail onychorrhexis, and toenail koilonychia consistent with Witkop's syndrome.- - - - - - - - - - ranking = 1keywords = sweat gland, sweat, gland (Clic here for more details about this article) |
2/13. dyskeratosis congenita with isolated neutropenia and granulocyte colony-stimulating factor treatment.A 3-year-old Turkish boy with a history of chronic cough, recurrent bronchopneumonia, and a borderline sweat chloride test (40 mEq/L) was referred for further evaluation to our department. He was born at term (2100 g) to a marriage with no consanguinity. His mother and father were 40 and 46 years old, respectively. physical examination (Fig. 1) revealed hypopigmented, atrophic, and hyperkeratotic skin lesions surrounded by reticulate hyperpigmentation on the entire body, predominantly on the face, neck, arms, shoulders, and legs, which had been noticed initially at the age of 18 months. Dystrophic toenails, sparse and thin hair, and phimosis were also observed. Laboratory tests disclosed an isolated neutropenia (white blood cell count, 1800/mm3). bone marrow (BM) aspiration showed a decreased myelopoiesis without myelodysplastic changes, but normal erythropoiesis, megakaryopoiesis, and normal stroma. Lymphocyte subgroups containing CD4, CD5, CD6, CD8, CD19, CD23, and CD25, and immunoglobulin g (IgG), IgM, IgA, and IgE, were in the normal range; hemoglobin F (HbF), 2.8%. Spontaneous and clastogen-induced chromosome breaks were not increased. A skin biopsy showed increased pigmentation at the basal layer, dyskeratotic epidermal cells, and marked IgM deposition and cytoid bodies and mild IgA and IgG deposits at the dermo-epidermal junction. Lactate response to glucose challenge, amino acid chromatography, and urine organic acid analysis were normal. A diagnosis of dyskeratosis congenita (DC) was made with typical skin lesions, dystrophic toenails, thin and sparse hair, and neutropenia with decreased myelopoiesis in BM. Treatment with granulocyte colony-stimulating factor (G-CSF) was considered for the neutropenia. As the increase in neutrophil count at a dose of 5 microg/kg was not adequate, 10 microg/kg G-CSF was tried (Fig. 2). With 10 microg/kg once to three times a week, a 1.8-4.8-fold increase in the absolute neutrophil count (ANC) was achieved with no side-effects. Treatment was more frequent during infection (days 22-28).- - - - - - - - - - ranking = 0.05539607644659keywords = sweat (Clic here for more details about this article) |
3/13. A rare case of tooth-nail syndrome.The present work is a case report of a 11-year-old patient directed for consultations to Department of Paedodontics, Medical University of Lublin. The clinical examination ascertained numerous lacks of permanent teeth, there were only central incisors in maxilla and first molars in mandibula. With the exception of teeth 54, 55, 64, 74, 84, which were reincluded, the patient had remaining deciduous teeth. The radiographic examination confirmed large oligodontia within permanent teeth. hair, sweat glands, anterior chamber and bottom of the eye were correct. Little disturbances within nail plates of palm fingers were found. A gentle form of ectodermal dysplasia was recognized as a tooth-nail syndrome (Witkop's syndrome).- - - - - - - - - - ranking = 0.5keywords = sweat gland, sweat, gland (Clic here for more details about this article) |
4/13. ectodermal dysplasia showing clinical overlap between AEC, Rapp-Hodgkin and CHAND syndromes.The ectodermal dysplasias represent a complex collection of congenital abnormalities of skin, hair, teeth, nail, and sweat gland development, many of which have overlapping clinical features. In this report, we describe a 7-year-old girl, born to clinically normal parents, with ankyloblepharon, cleft lip/palate and hair abnormalities, features resembling the autosomal dominant disorder, ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome, which results from mutations in the sterile-alpha motif domain of the gene encoding the transcription factor, p63. However, direct sequencing of the p63 gene in this individual did not reveal any pathogenic sequence variants. Moreover, two of her paternal cousins were discovered to have similar congenital ectodermal anomalies, raising the alternative possibility of an autosomal recessive pattern of inheritance. Furthermore, all affected individuals lacked a history of erosive scalp dermatitis that is usually characteristic of AEC syndrome. Instead, the scalp hair was coarse and wiry. In addition, another atypical feature, hypohidrosis, was present. Collectively, the clinical features also resembled Rapp-Hodgkin syndrome, Bowen-Armstrong syndrome and CHAND syndrome, but did not appear to fit neatly with any one particular disorder. This case highlights the difficulties in trying to classify the ectodermal dysplasia syndromes on clinical features alone.- - - - - - - - - - ranking = 0.5keywords = sweat gland, sweat, gland (Clic here for more details about this article) |
5/13. ichthyosis follicularis with congenital atrichia, nail dystrophy and palmoplantar keratoderma. Variant of IFAP syndrome or a new entity?A 23-year-old man was seen for dry, rough skin and alopecia present since birth. There was no history of impaired sweating, photophobia, or lacrimation. Examination revealed generalized cutaneous thorn-like projections with nonscarring alopecia, twenty-nail dystrophy, and palmoplantar keratoderma.- - - - - - - - - - ranking = 0.05539607644659keywords = sweat (Clic here for more details about this article) |
6/13. Treatment of pachyonychia congenita with plantar injections of botulinum toxin.pachyonychia congenita (PC) is a rare genodermatosis which may be associated with painful, focal hyperkeratosis on the soles. Plantar sweating at high ambient temperatures increases the blistering of the callosities. We report three patients with PC who had great problems in walking, especially during summer time. They were treated with intracutaneous plantar injections of botulinum toxin type A (Dysport, 100 U mL(-1); Ipsen, Slough, U.K.) after prior intravenous regional anaesthesia of the foot with a low tourniquet and 25 mL prilocaine (5 mg mL(-1)). Within a week all three patients experienced dryness and a remarkable relief of pain from plantar pressure sites. The effect duration was 6 weeks to 6 months. Repeated injections over a 2-year period confirmed the good results, with no side-effects or tachyphylaxis noted.- - - - - - - - - - ranking = 0.05539607644659keywords = sweat (Clic here for more details about this article) |
7/13. Hypoplastic-hypocalcified enamel of teeth and dysplastic nails: an undescribed ectodermal dysplasia syndrome.Hypoplastic-hypocalcified enamel of all permanent teeth and dysplasia of finger- and toe-nails were found in a 17-year-old Japanese male. physical examination revealed no remarkable changes in skin, hair, sweat glands, bones, etc. family history revealed the same abnormalities of teeth and nails in his mother's brother. A review of the literature concerning ectodermal dysplasia syndromes failed to reveal a combination of hypoplastic-hypocalcified enamel and dysplastic nails without changes in any other ectodermal tissues.- - - - - - - - - - ranking = 0.5keywords = sweat gland, sweat, gland (Clic here for more details about this article) |
8/13. Linear skin atrophy, scarring alopecia, anonychia, and tongue lesion: a "new" syndrome?One of a pair of female monozygotic twins showed skin atrophy with linear alternation of depressed scarlike areas and intervening ridges of normal or nearly normal skin. She was born with friable skin and a vesicular-bullous eruption which was followed by gradual scabbing. hypohidrosis in the affected areas, heat intolerance, and febrile convulsions were noted in infancy and childhood. No new skin lesions developed, and the existing ones, the sweating disturbance, and the heat intolerance gradually improved with time. Scarring alopecia, congenital absence of three toenails, and a scarlike lesion of the tongue were also present. Their absence in the other twin supports the view that 1) these manifestations all are part of the same syndrome, and 2) this syndrome is nongenetic. Histologically, there were no diagnostic or consistent findings, but the number of skin appendages was diminished, and the elastic fibers were reduced in number and size in one biopsy. The calculated probability for the twins being monozygotic was 0.9998. This family was also remarkable for the presence of alopecia areata in three successive generations with only one instance of apparent nonpenetrance. We conclude that this may represent a previously undescribed syndrome of congenital fragility of connective tissue which predisposed to damage of the elastica, possibly caused by an early inflammatory phase.- - - - - - - - - - ranking = 0.05539607644659keywords = sweat (Clic here for more details about this article) |
9/13. 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 = 0.11079215289318keywords = sweat (Clic here for more details about this article) |
10/13. pachyonychia congenita Jadassohn-Lewandowsky: a disorder of keratinization.A 15-month-old boy with pachyonychia congenita is described. The patient also had follicular keratosis, leukokeratosis of the tongue, and blisters on the soles. Histopathological examination of the follicular keratosis showed hyperkeratosis and acanthosis. Horny plugs were located in sweat pores. By electron microscopy abnormal keratinization was demonstrated.- - - - - - - - - - ranking = 0.05539607644659keywords = sweat (Clic here for more details about this article) |
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