Monther Obeidat, MD.
Pediatric specialist, Royal Medical Services, Jordan.

First described by the Dutch pediatrician Van Lohuizen in 1922, cutis marmorata
telangiectatica congenita (CMTC) is a rare, benign, sporadic skin lesion that presents itself as a localized or generalized, reticulated, blue-violet, cutaneous vascular network at birth (1).
This marbled pattern is always visible, but may be enhanced by cold temperatures or distress (1).
Lesions commonly occur on the legs, arms and trunk and rarely involve the face and the scalp and are usually associated with skin atrophy and ulcerations (2).

This is a 15 month old male patient who is the product of full term normal vaginal delivery with a birth weight of 4.0 kg. He has multiple skin lesions of different colors all over his body which are present since birth.

His right side of the body is bigger than the left and he was diagnosed to have ASD of 0.2cm. He is under regular follow up by the pediatric cardiologist.

He had nutritional rickets at the age of 6 months, which was treated successfully by vitamin D2 injection once.

His father had a pituitary tumor which was resected and he is on hormonal replacement therapy now.

On examination there was a small blind auricular sinus on the right ear, periorbital and scleral bluish discoloration and multiple big Mongolian spots on the shoulders, trunk and lower limbs. He has hemihypertrophy of the right side which is more prominent (in size not length) in the right arm. This is becoming less prominent than in early months. On that side he has cutis marmorata rash which involves also the right side of the chest. It slightly crosses the Midline. Also he has multiple small hypopigmented macules on the trunk.
He has normal growth parameters and normal developmental milestones.

His photos are shown below.


Figure1: Periorbital and scleral bluish pigmentation

Figure2: Hemihypertrophy and Cutis marmorat


Figure 3: Hemihypertrophy

Figure 4: Multiple big Mongolian spots


Figure 5: Mongolian spot on left shoulder and Hypopigmented Lesions on the back


His lesions are becoming less prominent as he becomes older. He is under regular follow up in the pediatric and dermatology clinic.

These findings fit with the diagnosis of Phakomatosis pigmentovascularis type V or Cutis Marmorata Telangiectatica Congenita.

CMTC was thought to be a separate entity but in the year 2000 Enjolras and mulliken(3) have related this disease to another disorder of pigmentation called phakomatosis pigmentovascularis (PPV) which is a disorder of abnormal pigmentation of skin due to a combination of melanocytic and vascular abnormalities. It was subclassified into four types based on the proposed classification by Hasegawa and Yasuhara (4) in 1985. Each type has characteristic skin pigmentary lesions. Enjolras and mulliken described CMTC as being the fifth type of PPV as it has both melanocytic (Mongolian spots) and vascular (cutis marmorata) components.

CMTC is usually observed at birth or shortly thereafter in 94% of patients (2). In other reports, patients did not develop skin lesions until 3 months or even 2 years after birth.(5,6).

Additional abnormalities are common with CMTC. They are present in about 50% of the more than 300 cases reported so far. Extra cutaneous features include ocular (glaucoma, megalocornea, pigmentation etc), musculoskeletal (hemihypertrophy, macrocephaly, scoliosis etc) and CNS manifestations (seizures, mental retardation, hydrocephalus etc) (7-9).

In 1997, Moore et al. (10) and Clayton-Smith et al. (11) independently reported 13 and 9 children respectively with a malformation complex consisting of macrocephaly and cutis marmorata telangiectatica congenita. This common association was then described as a unique disorder. In our case, no signs of macrocephaly were detected.

One study reported an improvement in lesions in 46% of patients within 3 years (2). If CMTC persists into adulthood, it can result in complaints due to parasthesia, increased sensitivity to cold and pain and the formation of ulcers (12).

The diagnosis of cutis marmorata telangiectatica congenita is made upon finding typical clinical manifestations. Histological examination is usually not diagnostic and usually demonstrates an increase in the size and number of capillaries, veins and lymphatics (3). We did not perform any histological examination based on this knowledge in our case.

All cases have been sporadic (13) with a few possible exceptions (14).

Although the cause of PPV is unknown, it has been proposed that the combination of vascular and pigmentary anomalies arise as a result of a genetic concept called the twin-spotting Phenomenon (15, 16). In this phenomenon, there is double heterozygosity with the recessive vascular mutation on one chromosome and the pigmentary mutation on the homologous chromosome. During embryogenesis, somatic recombination or crossing-over occurs between the homologous chromosomes, resulting in two different cell populations, each being homozygous for either allele.

There is no specific treatment for this disorder. Laser treatment can help in patients with extensive nevus flammeus and Mongolian spot which do not show signs of spontaneous regression and if it represents an aesthetic problem. Recognition of possible underlying systemic and local anomalies and complications dictates management.

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Acta Derm Venereol (Stockh) 1922; 3:201-11.
2. Amitai DB, Fischman S, Merlob P, et al. Cutis marmorata telangiectatica congenita: clinical findings in 85 patients. Pediatr Dermatol 2000; 17:100-4.
3- Enjolras O, Mulliken JB (2000) vascular malformations. In: Harper J, Oranje A, Prose N (eds.) Textbook of dermatology. Oxford: Blackwell science, pp. 975-976.
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6- Lee S, Lee JB, Kim JH, et al. Cutis marmorata telangiectatica congenita with multiple congenital anomalies (van Lohuizen's syndrome). Dermatologica. 1981; 163(5):408-12.
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And report of a case in conjunction with congenital hypothyroidism. Pediatr Dermatol 1993;10:6-11.
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features in 35 cases. Arch Dermatol 1999;135:34-8.
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disorder with developmental delay and connective tissue abnormalities. Am J Med Genet 1997; 70:67-73.
11. Clayton-Smith J, Kerr B, Brunner H, et al. Macrocephaly with cutis marmorata, haemangioma and syndactyly-A distinctive overgrowth syndrome. Clin Dysmorphol 1997;6:291-302.
-12Hu IJ, Chen MT, Tai HC, et al. Cutis marmorata telangiectatica congenita with gangrenous ulceration and hypovolaemic shock. Eur J Pediatr. 2005 Jul;164(7):411-3.
13- Vidaurri-De La Cruz H, Tamayo-Sanchez L, Duran-Mckinester C, Orozco-Covarrubias Mde L, Ruiz-Maldonado R(2003)phakom pigmen II and IIIB: clinical findings in 24 patients. J Dermatol 30:381-388.
14-Kurczynski TW. Hereditary cutis marmorata telangiectatica congenita. Pediatrics. 1982;70:52-53.
15-Tadini G, Restano L, Gonzáles-Perez R, et al. Phacomatosis pigmentokeratotica: report of new cases and further delineation of the syndrome. Arch Dermatol. 1998;134:333-337
16-Happle R. Allelic somatic mutations may explain vascular twin nevi. Hum Genet. 1991;86:321-322.