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[Macrocephaly-cutis marmorata telangiectatica congenita].

C Girard1, D Bessis, B Guillot

  • 1Service de Dermatologie, Hôpital Saint-Eloi, CHU Montpellier. celine-girard@chu-montpellier.fr

Annales De Dermatologie Et De Venereologie
|May 31, 2006
PubMed
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Macrocephaly-cutis marmorata telangiectatica congenita (MCMTC) is a rare syndrome. This case highlights key features like macrocephaly, vascular anomalies, and limb asymmetry in a young boy.

Area of Science:

  • Pediatric Genetics
  • Dermatology
  • Medical Syndromes

Background:

  • Macrocephaly-cutis marmorata telangiectatica congenita (MCMTC) is a rare multiple congenital anomaly/mental retardation syndrome.
  • First described in 1997, MCMTC involves macrocephaly, cutis marmorata, and other abnormalities.

Observation:

  • A six-month-old boy presented with right-sided body hyperplasia.
  • Clinical findings included macrocephaly, a generalized vascular network, syndactyly, and capillary malformations.
  • Brain MRI revealed right-sided ventricular and hemispheric enlargement; skeletal imaging showed limb asymmetry.

Findings:

  • The patient exhibited macrocephaly and more than two major MCMTC features: cutis marmorata, superficial vascular anomaly, syndactyly, and asymmetry.
  • This case aligns with the polymalformative nature of MCMTC.

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Implications:

  • This report contributes to the limited dermatologic literature on MCMTC.
  • Recognizing the key components of MCMTC is crucial for diagnosis and management.
  • Further research into MCMTC pathogenesis and clinical spectrum is warranted.