Authors:
C. M. Grosse1, C. Schell-Apacik2, I. Körte1, L. Eftimov1, M. F. Reiser1, B. B. Ertl-Wagner1; 1Munich/DE, 2Berlin/DE
DOI:
10.1594/ecr2010/C-2906
Purpose
Cutis marmorata teleangiectatica congenita (CMTC)is a rare congenital vascular anomaly occurring in a patchy, segmental, unilateral manifestation combining following characteristic findings:
- persistent cutis marmorata
- teleangiectasia
- phlebectasia
Synonyms of CMTC: congenital generalized phlebectasia, livedo teleangiectatica, congenital livedo reticuralis, Van Lohuizen Syndrome
The anomalies were first recognised by the dutch pediatrician Van Lohuizen (1922)
Aetiology: unknown, cause may be multifactorial
Hypotheses for the etiology:
- external factors
- peripheral neural dysfunction
- failure of the mesodermic vessels in the early embryonic stage
- autosomal dominant inheritance with incomplete penetrance
- Happle lethal gene hypothesis or paradominant inheritance
Localisation: extremities, commonly the lower limb, the upper extremities , trunk and face
Symptoms: Nevus flammeus, hemangioma, nevus anemicus, café-au lait spots, melanocytic nevus, aplasia cutis, acral cyanosis
Differential Diagnosis
- Neonatal lupus erytematodes
- Naevus anemicus
- Nevus flammeus
- Diffuse phlebectasia
- Sturge-Weber Syndriome
- Klippel-Trenaunay Snydrome
- Ataxia teleangiectatica
- M. Osler
- Angioma serpiginosum
- congenital Livedo
Complications may occur in form of ulceration of the involved skin or cutaneous atrophy
Several times (20-70%) CMTC is associated with several other congenital anomalies as :
- body asymmetry, overgrowth or hemihypertrophy 85%
- Makrocephaly 98%
- mental retardation
- congenital glaucoma
- syndactyly
Macrocephaly-cutis marmorata telangiectatica congenita is a recently recognized syndrome
The purpose of our study was to summarize and assess characteristic intracerebral MR features concerning theis syndrome and to draw a clear distincion to other syndromes mentioned.