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 examination, physical (Clic here for more details about this article) |
2/6. Sebaceous nevus syndrome as the underlying cause of intractable seizures in a one-month-old infant.A one-month-old male infant with generalized seizures since 2 days old was evaluated at the Department of pediatrics, faculty of medicine, Ramathibodi Hospital, Mahidol University, Bangkok, thailand. His seizures were initially characterized as focal movement of the right upper and lower limbs followed by generalized tonic. Initially, phenobarbital was administered but failed to control his seizures. physical examination revealed generalized mild hypotonia with a hyperpigmented brownish patch affecting the left side of his face. The initial diagnosis was sebaceous nevus syndrome which is one of the neurocutaneous syndromes. The diagnosis was confirmed by skin biopsy of the affected lesion. The literature was reviewed and discussed. The authors emphasized the importance of thorough physical examination including evaluation of specific skin lesion which would be a leading clue in making the diagnosis of symptomatic epilepsy in infants.- - - - - - - - - - ranking = 1keywords = physical examination, physical (Clic here for more details about this article) |
3/6. child syndrome in 3 generations: the importance of mild or minimal skin lesions.BACKGROUND: child syndrome (congenital hemidysplasia with ichthyosiform nevus and limb defects, Online Mendelian Inheritance in Man 308050) is an X-linked dominant trait with lethality for male embryos. The disorder is caused by mutations in NSDHL (Online Mendelian Inheritance in Man 300275), a gene playing an important role in the cholesterol biosynthetic pathway. Most reports deal with sporadic cases, and only 5 cases of mother-to-daughter transmission have been documented. We present here a family with mild features of child syndrome in 3 generations. Molecular analysis was used to confirm the diagnosis. OBSERVATIONS: We studied 14 members of a family with child syndrome. The 23-year-old proposita, her mother, 2 aunts, and her grandmother presented with mild or minimal skin lesions that had been present since infancy. Analysis of the NSDHL gene showed missense mutation c.370G-->A in these 5 patients. This mutation was absent in the 9 clinically unaffected family members tested. CONCLUSIONS: In this family, we recognized child syndrome with mild or minimal features in 3 generations because we were able to verify our clinical diagnosis by means of molecular analysis. We assume that many cases that so far have been considered sporadic may in fact be familial when a meticulous physical examination of female family members is combined with molecular testing.- - - - - - - - - - ranking = 1keywords = physical examination, physical (Clic here for more details about this article) |
4/6. White sponge nevus. diagnosis by light microscopic and ultrastructural cytology.The lesions of white sponge nevus, an autosomal dominant abnormality of squamous epithelial differentiation that primarily affects the oral cavity, may be grossly similar to those of other hereditary mucosal syndromes, infections or preneoplastic/neoplastic processes. This differential diagnosis is best resolved in many cases by exfoliative cytology, interpreted in the context of clinical history and physical findings. The following report describes a case of white sponge nevus with typical clinical and cytologic findings, in which the diagnosis was confirmed by ultrastructural cytology. light microscopic cytology revealed parakeratotic cells and many cells containing dense eosinophilic intracytoplasmic inclusions. Electron micrographs of exfoliated cells demonstrated that these inclusions are composed of disordered aggregates of tonofilaments.- - - - - - - - - - ranking = 0.067382976182037keywords = physical (Clic here for more details about this article) |
5/6. Facial hemihypertrophy associated with nevus unius lateris syndrome.A review of the clinical characteristics and etiologic theories of nevus unius lateris and associated facial hemihypertrophy is presented. A case report with significant medical and dental findings is discussed in light of the significant social and physical impairment resulting from oral hemihypertrophy and other physical deformities.- - - - - - - - - - ranking = 0.13476595236407keywords = physical (Clic here for more details about this article) |
6/6. Diffuse whitening of the oral mucosa in a child.We report a healthy 16-year-old Caucasian boy, who consulted us for white, asymptomatic lesions in the mouth. The lesions were stable and had been present for 6 years. On physical examination, there were diffuse white, soft, corrugated plaques involving the buccal and labial mucosa, oral commissures, and floor of the mouth. No other mucosae were affected and there were no skin or nail abnormalities. The histologic findings revealed epidermal hyperplasia with parakeratosis and intracellular edema in the squamous cell layer. No nuclear atypia was observed. A differential diagnosis of three entities is proposed: white sponge nevus, leukoedema, and focal epithelial hyperplasia.- - - - - - - - - - ranking = 1keywords = physical examination, physical (Clic here for more details about this article) |