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Cutis marmorata telangiectatica congenita
Cutis marmorata telangiectatica congenita (CMTC) is a congenital localized or generalized vascular anomaly characterized by a persistent cutis marmorata pattern with a marbled bluish to deep purple appearance, spider nevus-like telangiectasia, phlebectasia and, occasionally, ulceration and atrophy of the affected skin.
ORPHA:1556Classification level: Disorder
About 300 cases have been reported so far. Both genders seem equally affected.
In 90% of cases, the skin anomalies are observed at birth or shortly after birth, and may become more accentuated in the first few weeks. CMTC manifests with a localized or generalized reticulated, frequently asymmetrical, blue-violet colored vascular network in the skin. Skin changes may range from fine diffuse capillary anomalies without atrophy to atrophic or ulcerated larger purple reticulated bands. The cutaneous lesions most commonly occur on the legs, less commonly on the arms and trunk, and rarely involve the face and scalp. More than 50% of the CMTC patients present with associated cutaneous and/or extracutaneous anomalies (referred to as the macrocephaly-CMTC syndrome; see this term), most frequently body asymmetry (hypotrophy or hypertrophy of an involved extremity) and vascular lesions (capillary malformations). Other associated anomalies include neurological abnormalities (psychomotor retardation, seizures, and hypotonia), ocular anomalies (retinal detachment and congenital glaucoma; see this term), syndactyly, and macrocephaly. CMTC can also be associated with Adams-Oliver syndrome (see this term).
The etiology remains unknown.
Diagnosis is clinical. If the head is affected, ocular and neurological examination should be performed. Possible associated anomalies should be excluded by a careful clinical examination. Histopathologic findings are often nonspecific or show dilated capillaries and veins in the dermis.
Differential diagnoses include Klippel-Trénaunay syndrome, Sturge-Weber syndrome, Bockenheimer syndrome, some port-wine stain capillary malformations, and macrocephaly-CMTC (see these terms). Persistence of skin changes with local warming distinguishes CMTC from physiological cutis marmorata.
CMTC occurs sporadically but a genetic basis has been proposed for some affected families.
Management and treatment
Treatment is usually not required. Laser therapy has been tried in several patients with persistent CMTC and variable outcomes have been reported.
Prognosis is generally good, with a tendency for clinical improvement during infancy or even complete resolution.