poikiloderma congenitale
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poikiloderma — A variegated hyperpigmentation and telangiectasia of the skin, followed by atrophy. [poikilo + G. derma, skin] p. atrophicans and cataract SYN: Rothmund syndrome. p. atrophicans vasculare a rare condition that simulates chronic … Medical dictionary
List of cutaneous conditions — This is an incomplete list, which may never be able to satisfy particular standards for completeness. You can help by expanding it with reliably sourced entries. See also: Cutaneous conditions, Category:Cutaneous conditions, and ICD 10… … Wikipedia
Rothmund-Thomson-Syndrom — Klassifikation nach ICD 10 Q82.8 Sonstige näher bezeichnete angeborene Fehlbildungen der Haut … Deutsch Wikipedia
syndrome — The aggregate of symptoms and signs associated with any morbid process, and constituting together the picture of the disease. SEE ALSO: disease. [G. s., a running together, tumultuous concourse; (in med.) a concurrence of symptoms, fr. syn,… … Medical dictionary
Chromosome 8 (human) — Chromosome 8 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 8 spans about 145 million base pairs (the building material of DNA) and represents between 4.5 and 5.0% of the total DNA… … Wikipedia
Gluten-sensitive enteropathy associated conditions — Gluten sensitive enteropathy (GSE) has key symptoms typically restricted to the bowel and associated tissues, however there are a wide variety of associated conditions. These include bowel disorders (diarrhoea, constipation, irritable bowel),… … Wikipedia
Syndrome de Rothmund-Thomson — Référence MIM 268400 Transmission Récessive Chromosome 8q24.3 Gène RECQL4 Empreinte parentale Non … Wikipédia en Français
Syndrome de rothmund-thomson — Autre nom Poïkilodermie de Rothmund Thomson Référence MIM … Wikipédia en Français
Rothmund-Thomson syndrome — an autosomal recessive syndrome characterized by reticulated, atrophic, hyperpigmented, telangiectatic cutaneous plaques, often with juvenile cataracts, saddle nose, congenital bone defects, disturbances in growth of hair, nails, and teeth, and… … Medical dictionary