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.
A 20-day-neonate presented with a congenital giant unilateral purplish vascular slightly elevated swelling covered the upper half of the right side of the face and nearby scalp region. The periorbital region was maximally involved.
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).
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 Phlebectasia, Van 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.