Cutis marmorata telangiectatica congenita

Abstract

Three of our own and 38 previously reported cases of cutis marmorata telangiectatica congenita (CMTC) are reviewed. Light and electronmicroscopic studies revealed atypical capillaries, venules, and veins in different cutaneous layers. Clinically, the lesions are manifested as telangiectasis, capillary hemangioma, cutis marmorata, venous hemangioma and varicose veins, depending on the type of vessels involved and the layer of skin affected. Secondary thrombosis with subsequent localized atrophy and ulceration occurs in a substantial number of cases. In at least 50% of cases there are associated findings. Hypoplasia or hyperplasia of „affected” or of „unaffected” organs is the most common association. Overwhelming sporadic occurrence, female reponderance, occasional minor manifestations in close relatives and considerable clinical variability suggest a multi‐factorial etiology of CMTC.

Congenital Glaucoma in Cutis marmorata teleangiectatica congenita

“…In some cases cutaneous marbling [Petrozzi et al, 1970;Miller, 1975], Previous data [Way et al, 1974;South and Jacobs, 1978;Picascia and Esterly, 1989] sug gest associated anomalies in nearly 50% of pa tients. A wide number of assocciated defects has been reported (table 1).…”

“…Although in CMTC a lot of histopathologic features, like dilated capillaries and veins, vas cular fibrosis, increased number of vessels or hyperkeratosis, are described [Way et al, 1974], microscopic findings in CMTC are not specific [South and Jacobs, 1978], Since histo pathologic features are variable, diagnosis re lies on clinical criteria.…”

Cutis Marmorata Telangiectatica Congenita in a Preterm Female Newborn: Case Report and Review of the Literature

“…Histopathology is often nonspecific or show swollen endothelial cells, dilated capillaries and veins in the dermis or venous lakes. 49,50 Imaging studies are indicated only for the evaluation of suspected congenital anomalies. 49,51 In 2009 some Authors proposed diagnostic criteria for CMTG based on the presence of all three major criteria and at least two or more minor criteria.…”

Paradominant Inheritance May Explain Familial Occurrence of Cutis marmorata telangiectatica congenita

“…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.…”

“…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. Other anomalies reported in only 1 or 2 cases include: patent ductus Botalli [19]; acrocyanosis and essential hypertension [25]; scoliosis [15]; fetal hydrops or pleural effusion [9]; decreased tone of abdominal muscles [1]; delayed motor development [1]; short stature, short fingers, sclerosis of metacarpals, syndactyly of toes, asymmetric skull [26]; maleruption of teeth [27]; triangular face, micrognathia, acral cyanosis [5]; decreased or increased circumference of affected limbs [2, 5, 18]; thoracic scoliosis, progressive hypoplasia of pelvis of the affected side and facial hypoplasia [28]. Scattered additional reports describe: 33-week prematurity [2]; perinatal pneumothorax with 2-week postmaturity [2]; seborrheic dermatitis [13]; atopic dermatitis [13]; congenital generalized fibromatosis [16]; cystinuria inherited from the mother [29]; neonatal lupus erythematosus [30]; transient signs of liver dysfunction during the neonatal period [2, 13]; dystrophic teeth, highly arched palate, scaphoid scapulae [31]; neonatal aspiration pneumonia, failure to thrive, hypertelorism, exophthalmos, diastasis recti, craniotabes [32]; increased ATD angle (angle between bases of second and fifth digit with the middle of the proximal palm being the vertex) bilaterally in dermatoglyphics [23, 33].…”