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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
Insights
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.
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.
Background:
Macrocephaly-cutis marmorata telangiectatica congenita is a multiple congenital anomaly/mental retardation syndrome described in 1997 in children with macrocephaly, cutis marmorata telangiectatica congenita and several other abnormalities.
Case Report:
A six month-old boy was seen for hyperplasia of the right side of the body. Clinical examination disclosed overgrowth, macrocephaly, a generalized reticulated, blue-violet vascular network, partial bilateral syndactyly between the 2nd and 3rd toes, and several superficial capillary malformations. Psychomotor development was normal. Brain MRI showed enlargement of the right lateral ventricle and hemisphere in relation to the left side but without malformation. Radiological examination of the skeleton showed asymmetry of the limbs.
Discussion:
The patient reported herein presented macrocephaly-cutis marmorata telangiectatica congenita syndrome characterized by macrocephaly and more than two of the main reported findings comprising cutis marmorata, superficial vascular anomaly, syndactyly and asymmetry. We set out the major components of this polymalformative syndrome that are rarely reported in the dermatologic literature.
