1/6. Giant nevoid hypertrichosis in an Iranian girl.A 12-year-old Iranian girl and her father had an extensive congenital nevus consisting of long, black terminal hair involving the entire back and the posterior surface of the arms without pigmentary changes of the underlying skin. A physical examination revealed no other abnormalities. In this study the possibility of a genetically determined etiology is considered.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
2/6. hypertrichosis cubiti: two new cases and a review of the literature.Two cases of hypertrichosis cubiti in combination with short stature, facial dysmorphias and retarded development are reported with a review of the literature. hypertrichosis cubiti, the hairy elbows syndrome, consists of a localized form of long vellus hair on the extensor surfaces of the distal third of the upper arm and the proximal third of the forearm bilaterally. It can be associated with short stature and other physical abnormalities. The mode of inheritance has not been established yet; an autosomal recessive as well as an autosomal dominant inheritance trait are postulated.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
3/6. Multiple congenital malformations including generalized hypertrichosis with gum hypertrophy in a child exposed to valproic acid in utero.Fetal valproate syndrome results from in utero exposure to valproic acid. It is characterized by a distinctive facial appearence, a cluster of minor and major anomalies, and central nervous system dysfunction. We report on a child exposed prenatally to valproic acid with unusual anomalies. This patient was the first child of young parents. Mother had several generalized seizures one year before this pregnancy, and since than she took valproic acid. pregnancy was otherwise uneventful. At birth physical examination showed generalized hypertrichosis sparing palms and soles, coarse face, gum hypertrophy, hypotonia, club feet and club hands, two annular constrictions of the right lower leg, and abnormal dermatoglyphics. Skeletal x-rays were normal. Gum hypertrophy and hypertrichosis may be part of a broader pattern of altered morphogenesis in fetus exposed to valproic acid or this patient had two conditions, fetal valproate syndrome and hypertrichosis with gum fibromatosis.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
4/6. hypertrichosis cubiti (hairy elbow syndrome): a clue to a malformation syndrome.hypertrichosis cubiti (HC) or hairy elbow syndrome (OMIM # 139600) consists of a localised form of long vellus hair on the extensor surfaces of the distal third of the upper arm and the proximal third of the forearm bilaterally, or occasionally on other parts of the body. In the 28 cases reported in the literature so far the elbow hair abnormality was either isolated or associated with short stature or other physical abnormalities. Most of these cases were sporadic, but autosomal dominant as well as autosomal recessive inheritance patterns have been postulated. We report on three unrelated girls (aged 7 to 11 years) of whom one presented with excess hair in the elbows alone and the other two had associated abnormalities including short stature, dysmorphic facial features and mental retardation. The literature on this subject has been reviewed and the authors focus on cases of HC with associated anomalies. A pathogenic explanation by somatic mosaicism is proposed.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
5/6. A case of leprechaunism with severe hyperinsulinemia.This report describes an infant with physical features typical of leprechaunism, including a characteristic facies, hirsutism, and decreased subcutaneous tissue and muscle mass. Intermittent hypoglycemia and severe hyperinsulinemia were documented. The patient's insulin was normal in molecular size and biological activity, but its binding to the patient's cultured fibroblasts was profoundly decreased. insulin antibodies were not present. A literature review has been undertaken to clarify further the clinical, metabolic, and pathological characteristics of this condition.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
6/6. A new case of hairy elbows syndrome (hypertrichosis cubiti).hypertrichosis cubiti, also named hairy elbows syndrome (HES), is an uncommon variety of congenital, circumscribed hypertrichosis in which a remarkable amount of long vellus hair is localized on the extensor surfaces of the upper extremities. Usually, this condition appears in infancy, increases during early childhood, and regresses spontaneously at puberty. The mode of inheritance is not elucidated, and the condition presents in a sporadic or familial form. In most patients HES is not associated with any other physical abnormalities, although short stature and other developmental disorders have been described in some. An 8-year-old girl affected with HES is reported. The literature on this subject is reviewed, and some clinical and etiopathogenic aspects are discussed.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |