All cases in Genodermatoses

Von Recklinghausen’s disease

Von Recklinghausen’s disease
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Asymptomatic, mutiple, skin-coloured soft tumors that can be pushed down into the panniculus by light pressure with the finger (“buttonholing”) and spring back when released. These nodules covered most of body areas and and their onset dated to early childhood. The father also has neurofibromatosis type I.

Case presented by Dr. Ayman Abdelmaksoud, MD, Egypt.

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Adenoma sebaceum

Adenoma sebaceum

Adenoma sebaceum2

History

          A young adult female presented with skin-colored to brownish firm papules involved the cheeks and dorsal surface of the nose since early childhood without other manifestations of tuberous sclerosis.  The lesions on the left cheek had been treated with dermabrasion by a plastic surgeon with bad cosmetic outcome (atrophic scar).
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Cutis Marmorata Telangiectatica Congenita

Cutis Marmorata Telangiectatica Congenita

History

       A few-months-old female baby presented with unilateral lower limb hypoplasia, a network-like telengiectasia and focal atrophic scars since birth. The vascular anomaly is exaggerated on crying and cold exposure.

           Cutis Marmorata Telangiectatica Congenita (Congenital PhlebectasiaVan Lohuizen Syndrome) is characterized by the presence of a purplish, reticulated vascular network with a segmental distribution, usually involving the extremities. The mottling is pronounced and is made more distinct by crying, vigorous activity, and cold. Lesions usually improve by 2 years of age, but may remain stable. The condition occurs sporadically, and there is a female preponderance. Associated anomalies occur in more than half of patients. Common anomalies include varicosities, nevus flammeus, ulceration, macrocephaly, and hypoplasia and hypertrophy of soft tissue and bone.

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