1/9. 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 = ridge (Clic here for more details about this article) |
2/9. Witkop tooth and nail syndrome: report of two cases in a family.tooth and nail syndrome, an autosomal dominant condition, is characterized by hypodontia and nail dysplasia. Mandibular incisors, second molars and maxillary canines are the most frequently missing teeth. tooth shape may vary and conical and narrow crowns are common. Nail dysplasia affects fingernails and toenails and is often more severe in childhood. nails may be spoon-shaped, ridged, slow growing and easily broken. The clinical and radiographic features of a father and son presenting with this rare condition are described.- - - - - - - - - - ranking = 1keywords = ridge (Clic here for more details about this article) |
3/9. Familial koilonychia.A 2-year-old boy with flat and spoon-shaped nail plates was referred to us. His mother had noticed that his fingernails were quite soft when he was born. After 2 months, the nails became flat or spoon-shaped; the toenail plates also became rough and flat. Systemic examination revealed nothing unusual. All his fingernail plates were quite thin, and had concave surfaces; the distal edges of some nail plates were rough and darkened (Fig. 1). His great, second and middle toenails on both sides showed the same abnormalities as the fingernails. Routine laboratory tests were normal; serum levels of iron, zinc, calcium, and magnesium were within normal limits. Repeated microscopic examination and culture of fungi from both fingernails and toenails were negative. Histologic examination of the distal edges of some of his fingernail plates was basically normal. When checking members of the family, we noticed that the boy's mother and maternal grandmother had similar nail problems (out of 14 members of three generations), although no systemic or other skin disorders were noticed. All the fingernails of the boy's mother were lusterless and concave with darkening of the distal edges (Fig. 2). All her toenails were rough, lusterless, and brown; some of them had longitudinal ridges. His maternal grandmother had light brown colored fingernail plates with concave profiles (Fig. 3), and dark brown or even blackish colored toenails. Both the mother and maternal grandmother acknowledged that their nails were abnormal from early childhood. Repeated microscopic examination and culture of fungi from both fingernails and toenails were negative. Several distal portions of the nail plates were collected for histologic examination. The fingernail plates of the boy's mother showed numerous parakeratotic cells in the middle zone, and those of his maternal grandmother showed diffuse parakeratotic cells; melanin granules were not found in those nail plates that were checked. Taken together, a diagnosis of familial koilonychia was established.- - - - - - - - - - ranking = 1keywords = ridge (Clic here for more details about this article) |
4/9. A novel 2.3 Mb microduplication of 12q24.21q24.23 detected by genome-wide tiling-path resolution array comparative genomic hybridization in a girl with syndromic mental retardation.We report on a female patient with severe mental retardation, dysmorphic features, deafness, spasticity, and behavioural problems in whom a 2.3 Mb duplication of 12q24.21q24.23 was detected by genome-wide tiling-path resolution array-based comparative genomic hybridization. Mental retardation, microcephaly, short stature, recurrent infections, hypotonia and facial features, such as hypertelorism, epicanthal folds, and a broad nasal bridge, were also described in patients with larger duplications overlapping the 12q24.21q24.23 region. The duplicated region contains 16 genes, of which several genes, such as thyroid hormone receptor associated protein 2, replication factor C5 and nitric oxide synthase 1, are expressed in the brain and/or are involved in embryogenesis. The current case shows that microduplications might be a more frequent cause of mental retardation and human malformation than previously appreciated.- - - - - - - - - - ranking = 1keywords = ridge (Clic here for more details about this article) |
5/9. Case report and delineation of the congenital hypothalamic hamartoblastoma syndrome (pallister-hall syndrome).We report one new case of congenital hypothalamic hamartoblastoma syndrome (pallister-hall syndrome) and one case of a diencephalic nodule associated with craniofacial malformations. Based on a review of 11 cases of pallister-hall syndrome documented by pathological examination, two cases presumed by phenotype, three cases of hypothalamic hamartoma with craniofacial anomalies only, and several cases of related interest, we delineate the clinical, neuroradiologic, and neuropathologic manifestations which aid in differential diagnosis. Clinical manifestations in infants with pallister-hall syndrome included postaxial polydactyly with nail dysplasia, short nose with flat nasal bridge, apparently low-set, posteriorly angulated ears, kidney and lung anomalies, congenital heart defects, imperforate anus, and micropenis with undescended or hypoplastic testes in males. These manifestations were associated with varying degrees of panhypopituitarism and pituitary aplasia. In three cases of hypothalamic hamartoma associated with craniofacial anomalies only, the face resembled that of holoprosencephaly. Other cases of hypothalamic hamartoma have had associated palate or heart defects or presented with precocious puberty. Of the infants with a hypothalamic hamartoblastoma at autopsy, neuropathologic findings were consistent with a primitive neuroectodermal tumor. Surgical tissue from our sole survivor suggested such tumors might mature, and the tumor has not recurred. Neuroradiologic diagnosis may be difficult but should be attempted in infants with these clinical manifestations; due to the need for prompt initiation of appropriate therapy.- - - - - - - - - - ranking = 1keywords = ridge (Clic here for more details about this article) |
6/9. 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 = 1keywords = ridge (Clic here for more details about this article) |
7/9. 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 = 5keywords = ridge (Clic here for more details about this article) |
8/9. Diphenylhydantoin teratogenicity in man.A case is presented of fetal teratogenic damage from an unusually high maternal dosage of diphenylhydantoin, 600 mg daily, to a 40-kg woman throughout pregnancy. The anomalies included narrowed ends of the fingers and toes; aplasia of the nails on the other fingers and toes; aplasia of the distal phalanges of the fingers and toes; a broad, depressed nasal bridge; anteverted nostrils; prominent upper lip; coarse, profuse scalp hair; pilonidal sinus; and simian crease of the left hand. At the age of 7 months, ossification of the distal phalanges of both middle fingers appeared, the anterior fontanel was small, brain development was retarded, cranial asymmetry was marked, and the fingertips showed a pattern of low arch dermal ridges.- - - - - - - - - - ranking = 2keywords = ridge (Clic here for more details about this article) |
9/9. An ectodermal dysplasia syndrome of alopecia, onychodysplasia, hypohidrosis, hyperkeratosis, deafness and other manifestations.A girl is reported with a hitherto apparently undescribed ectodermal dysplasia syndrome. The main findings include: alopecia, onychodysplasia, hypohidrosis, sensorineural deafness, skin with a tan color and hyperkeratosis (involving also plams and soles), unusual facies (with slight auricle and nose abnormalities), pectus excavatum, severe hyperopia, EEG abnormalities, and retarded bone age. The patient also presents mongoloid palpebral slanting, narrow palpebral fissures, bilateral esotropia, photophobia and dermatoglyphics with extensive ridge dissociation. The etiology is unknown but presumed to be genetic, possibly due to the homozygous state of an autosomal recessive mutation.- - - - - - - - - - ranking = 1keywords = ridge (Clic here for more details about this article) |