Neurofibromatosis versus giant pigmented nevus.
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Biomedical subjects
Publications and source records attributed to A Metzker.
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A 5 1/2-year-old Sephardic Jewish girl, born of consanguineous parents, is described. She has short stature, microcephaly, conductive hearing loss, skin mastocytosis and microtia. Since this constellation of findings has not been reported previously, we think that these findings represent a new congenital malformation, most probably of genetic etiology.
A case of subcutaneous fat necrosis (SCFN) in a newborn who had suffered from asphyxia secondary to meconium aspiration is described. During the third week of life, bluish-red subcutaneous nodules were noticed. A biopsy of the lesions showed subcutaneous necrosis with fat cells containing needle-like crystals with reactive inflammatory infiltrates. Peripheral transient thrombocytopenia was observed prior to the appearance of subcutaneous fat necrosis. The good prognosis is stressed.
A red-violet, rhomboid-shaped mark on the sacrum of 25 children is described. It is recognized, for the first time, as a part of the nevus flammeus simplex distribution; it is less common than the erythema nuchae or the facial salmon patch. It has the tendency to disappear more slowly than other forms of nevus flammeus simplex. No further investigations seem indicated.
The simultaneous occurrence of a congenital lateral sinus of the upper lip and of a congenital gingival cyst in a newborn boy is reported. The sinus extended to a depth of 10 mm and was lined by a parakeratinized squamous epithelium. The gingival cyst appeared as a 1 cm palatal enlargement lingual to the maxillary alveolar ridge and demonstrated a thin epithelial lining with localized plaquelike thickenings and occasional clear cells with vacuolated cytoplasm. There was no familial history of congenital deformities, and no additional abnormalities were noted. These two epithelium-lined structures show a clear topographic and morphologic relationship, and they may share a common embryologic origin. It is suggested that they derive from epithelium remaining subsequent to the union of the maxillary process and medial nasal process mesoderms.
We cared for twin females with severe lamellar exfoliation of the newborn (collodion babies) and a family history of death of two brothers at age 3 months. The twins were given a controlled trial of etretinate (Ro 10-9359, Tigason) after not responding to other therapeutic modalities. One of the infants received 1 mg/kg body weight of the drug for 24 hours, while her identical twin sister did not have the medication. Monthly skin biopsies taken from both patients during nine months of therapy did not demonstrate any histologic difference under light microscopy. The clinical course in both infants was basically the same. Etretinate plasma level measurements proved that the drug was absorbed from the gastrointestinal tract. We conclude that in the very severe forms of congenital lamellar ichthyosis, oral retinoids may fail to produce any beneficial effects.
A rare case of tumoral calcinosis (TC) with oral manifestations is presented in a 5-year-old child. The possible correlation between prepubertal periodontitis and TC is suggested and discussed.
Familial cutaneous and subcutaneous tumoral calcifications are a recognized entity of unknown pathogenesis. The course of calcinosis and various treatments are discussed and the literature concerning the aetiology is reviewed. Our ten cases provided some experience in dealing with tumoral calcinosis and demonstrated, in addition, some clinical phenomena unrecognized previously, such as involvement of the mucous membranes and an erythematous rash preceding the development of calcified nodules.
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Two hundred and sixty-eight children with pediculosis capitis took part in a comparative study to test the efficacy of five different pediculocides commonly used in Israel. The preparations used were pyrethrin shampoo, pyrethroid spray, malathion solution, carbaryl shampoo and carbaryl lotion. Carbaryl lotion and malathion solution were much more efficient when compared to the shampoo and spray preparations.
A case of erythema annulare of infancy lasting for two years is presented. The striking features of this overall annular eruption, of idiopathic origin, are noted. This case is unusual because of the late onset and the long duration of symptoms. Such cases warrant prolonged follow-up examinations after the annular lesions disappear.
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Hereditary hypotrichosis simplex of the scalp is a rare trait with onset in early childhood. This phenomenon has been reported only once previously, in a Spanish kindred. This communication describes a case in a Jewish-Yemenite kindred with 51 affected individuals and confirms autosomal dominant inheritance.
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