Cutis marmorata telangiectatica congenita

Abstract

Cutis marmorata telangiectatica congenita (CMTC) is a rare condition. Less than 60 cases have been reported. We saw four patients who were born in Sydney, Australia, between April 1978 and September 1979. The homes of the four mothers were located within an area having a 19.2-km radius, a population of approximately 900,000, and an annual live birth rate of approximately 19,000. Two patients were male and two were female. All showed segmental involvement and early resolution. Hemiatrophy developed in three patients, but no other associated abnormalities were detected.

Cutis Marmorata Telangiectatica Congenita

“…Both of these complications have been reported in combination with CMTC by other authors. 1,2,6,8,10,11 Thedistributionoftheskinlesionswereverywidespread in 11% of the cases but in no patient were completely generalized. The other children (89%) showed more localized lesions.…”

“…Histopathologic examination of biopsy specimens may show an increase in the number and the size of capillaries and veins but is usually not necessary to confirm the diagnosis. 2,7,8 Additional anomalies have been frequently reported in association with CMTC. Most of the congenitally associated anomalies are minor and sometimes questionable.…”

“…These include environmental factors, autosomal dominant inheritance with low or variable penetrance, a multifactorial cause, or a lethal gene surviving by mosaicism. [2][3][4][5][6] The diagnosis is established on clinical grounds. Histopathologic examination of biopsy specimens may show an increase in the number and the size of capillaries and veins but is usually not necessary to confirm the diagnosis.…”

Paradominant Inheritance May Explain Familial Occurrence of Cutis marmorata telangiectatica congenita

“…The disorder is noted at birth or shortly thereafter, and the features include persistent cutis marmorata, telangiectasia, phlebectasia, occasional ulceration, with a tendency to some improvement with age [2, 3, 4, 5](fig. 1).…”

“…In other individuals persistent skin lesions and associated extracutaneous anomalies may be noted. Pehr and Moroz [6]reported associated defects in 68% of patients; these include body asymmetry (usually limb hyperplasia or hypoplasia) [2, 5, 10, 11, 12, 13, 14, 15, 16, 17, 18], additional vascular anomalies (most commonly port-wine stains, including some cases of Sturge-Weber syndrome) [2, 3, 14, 17, 18, 19, 20], glaucoma [14, 16, 19], lesions of aplasia cutis congenita, cleft palate [2, 4, 14, 15, 21, 22, 23]and psychomotor or mental retardation [2, 4, 15, 17, 23]. Clayton-Smith et al [9]reported an association with syndactyly and macrocephaly in 8 patients and Robertson et al [24]reported an association with macrocephaly in 5 patients.…”