Extensive Red and Blue Patches in a Young Girl

A 22-month-old girl was referred to our department for evaluation of congenital cutaneous anomalies. A large vascular stain on the face and an extensive bluish discoloration of the trunk were present since birth. During the first weeks of life the neonate developed frequent epileptic seizures despite intensive antiepileptic medication. Radiological imaging of the brain demonstrated angiomatosis and a small intracerebral hemorrhage in the left hemisphere. An abdomen ultrasound scan at the age of 4 weeks was without pathological findings. Later on, psychomotor retardation and a right-sided hemiparesis became evident. Because of bilateral glaucoma due to capillary proliferations ophthalmological interventions were repeatedly performed.

On clinical examination, a widespread reddish patch was visible on the head and chest with preference of the left body side and incomplete midline demarcation ([Fig. 1]). Limb asymmetry was not detected. Moreover, a large bluish-grey patch covered the entire upper back and in a more patchy pattern the abdomen ([Fig. 2]). A biopsy of the back was obtained in general anesthesia during an ophthalmologic intervention after the parents´ informed consent. Histological examination of the bluish-grey patch on the back showed scattered, spindle-shaped, S100-positive cells as well as melanophages within the entire dermis in a diffuse arrangement between collagen bundles ( [Fig. 3]). Diagnosis of phacomatosis cesioflammea was made.

Fig. 1 Extensive red and bluish-grey patches with predominance of the left body site.

Fig. 2 Widespread dermal melanocytosis at the back.

Fig. 3 Biopsy from the back showing scattered S-100 positive melanocytes. Magnification 200x.

Phacomatosis cesioflammea is the most common subtype of phacomatosis pigmentovascularis (PPV) (Happle R. Arch Dermatol 2005; 141: 385–388). The term PPV includes a group of rare congenital skin disorders being defined by the association of a widespread vascular nevus with an extensive pigmentary nevus, in part being accompanied by additional cutaneous and extracutaneous features (Fernandez-Guarino M, Boixeda P, de Las HE et al. J Am Acad Dermatol 2008; 58: 88–93).

3 main subtypes of PPV are distinguished: phacomatosis cesioflammea (nevus flammeus plus extensive dermal melanocytosis), phacomatosis spilorosea (nevus roseus plus macular nevus spilus) and phacomatosis cesiomarmorata (cutis marmorata telangiectatica plus extensive dermal melanocytosis). The capillary malformation may present with clinical features of Sturge-Weber- or Klippel-Trenaunay syndrome, i.e., early-onset glaucoma, intracerebral angiomatosis with neurological symptoms or limb asymmetry.

The exact etiopathogenesis and the underlying genetic defects of PPV are so far unknown. However, the concept of non-allelic twin spotting resulting in a mosaicism of genes which regulate melanocytic migration and neurovascular development, is the most conclusive hypothesis (Chiu HH, Chen GS, Wu CS et al. Int J Dermatol 2009; 48 (4): 416–418). The most common cutaneous pattern of mosaicism in PPV is patchy without midline separation (Vidaurri-de la Cruz H, Tamayo-Sanchez L, Duran-McKinster C et al. J Dermatol 2003; 30: 381–388), as in the present case. Cutaneous lesions like nevus anemicus and café-au-lait spots as well as developmental anomalities of bones, soft tissues or internal organs are associated in about half of the cases (Vidaurri-de la Cruz H, Tamayo-Sanchez L, Duran-McKinster C et al. J Dermatol 2003; 30: 381–388).

Diagnosis, treatment and follow-up of patients suffering from phacomatosis cesioflammea demand an interdisciplinary approach, especially with regard to the rarity of the disease. Complications and clinical course are mainly determined by location and extent of the melanocytosis and the nevus flammeus (Finklea LB, Mohr MR, Warthan MM et al. Pediatr Dermatol 2010; 27: 303–305). Eye involvement includes melanosis oculi, pigmentary cataract and glaucoma, requiring close monitoring and often repeated interventions. However, the major feature predicting the prognosis is capillary malformation of the brain ­giving rise to seizures, intracerebral hemorrhage, strokes and psychomotor retardation. As evident from our case, treatment of the extracutaneous complications is often difficult and sometimes of limited success. Therefore, timely referral to specialists with appropriate investigations and, if indicated, immediate therapy are of utmost importance. As late-onset complications of vascular malformations in patients with phacomatosis cesioflammea have been described (Chiu HH, Chen GS, Wu CS et al. Int J Dermatol 2009; 48: 416–418), regular follow-up should be ensured.

Treatment of skin manifestations mainly follows cosmetic concerns and includes laser treatment for nevus flammeus and melanocytosis. However, as skin lesions may sponaneously faint with age, therapy of cutaneous lesions is not mandatory and a “wait and see” strategy justified.