Cutis Marmorata

A Newborn With Diffuse Reticular Erythema

Alejandra Gaxiola, MD, and Suma Pyati, MD

A boy was born at 39 weeks of gestation to a 41-year-old mother who had had gestational diabetes. The newborn’s weight was 3,230 g (in the 50th to 75th percentile), his length was 50 cm (in the 75th percentile), and his head circumference was 36 cm (in the 90th percentile). The delivery and the rest of the hospital course were uneventful.

On his second day of life, the newborn was noted to have diffuse reticular erythema of all 4 extremities, the trunk, and the neck (Figure 1). The skin mottling did not fade with warming, and it worsened with cold and crying. No other skin lesions or dysmorphic features were noted.

mottled

Figure 1. A newborn at 3 days of age with a diffuse, reticular, erythematous rash.

No medications had been given to child. Results of a screening test for congenital heart defects were negative. No arm length or leg length discrepancies were noted.

What is the cause of this newborn’s mottled appearance?

A. Diffuse phlebectasia

B. Physiologic cutis marmorata

C. Cutis marmorata telangiectatica congenita

D. Neonatal lupus erythematosus

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Answer: C, cutis marmorata telangiectatica congenita

The boy’s mother shared that she also had had skin mottling of her lower extremities since childhood, with no associated complications (Figure 2).

mottled leg

Figure 2. The newborn’s mother had had a similar reticular, erythematous rash on her legs since childhood.

The child was then discharged from the hospital nursery with a clinical diagnosis of cutis marmorata telangiectatica congenita (CMTC).

At a follow-up visit at 1 week of age, no new skin lesions were noted, but the mottling remained unchanged. Dermatology evaluated the newborn in the outpatient clinic and agreed with the clinical diagnosis of CMTC and the need for close follow-up.

At another visit at 2 weeks of age, evaluation by ophthalmology revealed no ocular anomalies. At 5 weeks of age, the reticulated, erythematous rash had improved somewhat but still was present (Figure 3).

mottled face

Figure 3. The patient at 5 weeks of life; although it was still present, the rash had improved.

Discussion

CMTC is a rare condition that was first described by van Lohuizen in 1922 in the Netherlands.1 It is a congenital vascular anomaly that occurs sporadically in most of the cases reported in the literature. Only a very small number of reported cases have demonstrated a familial association. Devillers and colleagues described 35 cases, one of which had some familial component.2 Andreev and Pramatarov described 2 sisters with this condition.3 In our case, a newborn presented with CMTC, and his mother was found to have similar livedo reticularis in her lower extremities.

Approximately 300 cases of CMTC had been reported worldwide as of 2009.4 The incidence and frequency of CMTC are unknown and possibly are underreported, since the condition usually is benign and is reported only when anomalies are associated with it.

The etiology of CMTC is uncertain, but several theories have been proposed, including that of genetic dominant inheritance with low penetrance and interfamilial variability.3 Although most cases have been sporadic, a paradominant inheritance has been suggested, which could explain the sporadic familial presentation.5 Other possible contributing factors may be environmental6 or teratogenic.7

Bormann and colleagues performed laser Doppler flowmetry on the involved skin of a child with a diagnosis of CMTC and found a perfusion deficiency that they suggest may have been caused by a dysfunction of vascular innervation.8 In one case series, the authors found superficial dermis with ectatic vasculature in a 8 of 33 patients with CMTC, 5 of whom presented with vessel proliferation.9

This vascular anomaly presents as a visible, reticulated, erythematous pattern on the skin, with or without the presence of telangiectasia.4 The condition is present from birth in most cases, or it develops on days 2 or 3 of life.4 There has been one report of a case of CMTC having been diagnosed in a patient at 18 years of age.9

Usually, the lesions fade in first 2 years of life, but there have been some reports of persistent lesions.10 CMTC presents with localized lesions in more than 70% of reported cases and as generalized lesions in 10% to 28% of reported cases.2,9,11,12 The most predominant affected area is the lower extremities, followed by the trunk and the upper extremities.9,11

The female to male ratio is approximately equal. The skin lesions of CMTC may be accompanied by skin atrophy, ulceration, or hyperkeratosis.2,9

Associated manifestations can be classified as cutaneous or extracutaneous. CMTC has approximately a 20% to 80% association with other anomalies, but it is uncertain whether some of these anomalies are found by chance.2,4,9,11 The most commonly reported cutaneous manifestation is nevus flammeus; others include nevus anemicus, hemangioma, café au lait macules, dermographism, and pyogenic granuloma.9,11 The most common extracutaneous manifestations are limb or body hypertrophy or hypoplasia.2,4,9,11,12

Other associated anomalies are hip dysplasia, thrombocytopenia, cleft palate, syndactyly, talipes, maldescended testes, hypospadias, inguinal hernia, lymphangioma, torticollis, renal anomalies, and a difference in blood pressure between asymmetrically affected limbs. Congenital glaucoma and neurovascular anomalies have presented in patients with facial involvement.2,11 Hu and colleagues presented a case of a gangrenous ulceration as a fatal complication of CMTC in a newborn who developed hypovolemic shock.13

The diagnosis is clinical. Diagnostic criteria have been proposed4 to distinguish between physiologic cutis marmorata, which is very similar to congenital cutis marmorata but responds to local warming (Table).

cmtcAwareness about this relatively rare condition is important among general pediatricians, since CMTC has been associated with anomalies in a significant percentage of cases. Referral to subspecialty care is critical, particularly to dermatology for follow-up at least until lesions begin to fade, usually in the first 3 years. While the definitively existence of a familial component has not been determined, obtaining a complete family history of patients with CMTC is important, since its presence may have implications for the parents’ future pregnancies. n

Alejandra Gaxiola, MD, is a third-year resident in the Department of Pediatrics at John H. Stroger Jr. Hospital of Cook County in Chicago, Illinois.

Suma Pyati, MD, is an attending physician in the Department of Pediatrics at John H. Stroger Jr. Hospital of Cook County.

Kirk Barber, MD, FRCPC—Series Editor, is a consultant dermatologist at Alberta Children’s Hospital and clinical associate professor of medicine and community health sciences at the University of Calgary in Alberta.

References

1.van Lohuizen CHJ. Über eine seltene angeborene hautanomalie (cutis marmorata telangiectatica congenita). Acta Derm Venereol. 1922;3:202-211.

2.Devillers ACA, de Waard-van der Spek FB, Oranje AP. Cutis marmorata telangiectatica congenita: clinical features in 35 cases. Arch Dermatol. 1999; 135(1):34-38.

3.Andreev VC, Pramatarov K. Cutis marmorata telangiectatica congenita in two sisters. Br J Dermatol. 1979;101(3):345-350.

4.Kienast AK, Hoeger PH. Cutis marmorata telangiectatica congenita: a prospective study of 27 cases and review of the literature with proposal of diagnostic criteria. Clin Exp Dermatol. 2009;34(3):319-323.

5.Danarti R, Happle R, König A. Paradominant inheritance may explain familial occurrence of cutis marmorata telangiectatica congenita. Dermatology. 2001; 203(3):208-211.

6.Rogers M, Poyzer KG. Cutis marmorata telangiectatica congenita. Arch Dermatol. 1982;118(11):895-899.

7. Bhargava P, Kuldeep CM, Mathur NK. Cutis marmorata telangiectatica congenita with multiple congenital anomalies: further clues for a teratogenic cause. Dermatology. 1998;196(3):368-370.

8. Bormann G, Wohlrab J, Fischer M, Marsch WC. Cutis marmorata telangiectatica congenita: laser Doppler fluxmetry evidence for a functional nervous defect. Pediatr Dermatol. 2001;18(2):110-113.

9. del Boz González J, Serrano Martín MM, Vera Casaño A. Cutis marmorata telangiectatica congenita: review of 33 cases [in Spanish]. An Pediatr (Barc). 2008;69(6):557-564.

10. Mazereeuw-Hautier J, Carel-Caneppele S, Bonafé J-L. Cutis marmorata telangiectatica congenita: report of two persistent cases. Pediatr Dermatol. 2002; 19(6):506-509.

11. Amitai DB, Fichman S, Merlob P, Morad Y, Lapidoth M, Metzker A. Cutis marmorata telangiectatica congenita: clinical findings in 85 patients. Pediatr Dermatol. 2000;17(2):100-104.

12. Gerritsen MJ, Steijlen PM, Brunner HG, Rieu P. Cutis marmorata telangiectatica congenita: report of 18 cases. Br J Dermatol. 2000;142(2):366-369.

13. Hu I-J, Chen M-T, Tai H-C, Tsao P-N, Chou H-C, Hsieh W-S. Cutis marmorata telangiectatica congenita with gangrenous ulceration and hypovolaemic shock. Eur J Pediatr. 2005;164(7):411-413.