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A 15-month-old boy with extensive dermal melanocytosis, bilateral nevi of Ota, and patchy capillary malformations (port-wine stains) should be considered to have what syndrome?

A. Nevus unius lateralis

B. Bilateral nevus of Ota-like macules

C. Phakomatosis pigmentovascularis (cesioflammea)

D. Hypermelanosis of Ito

E. Lysosomal storage disease

C. The constellation of extensive dermal melanocytosis in conjunction with capillary malformations (nevus flammeus) and nevus of Ota +/– nevus anemicus is seen in phakomatosis pigmentovascularis, type II. Lysosomal storage diseases may have the dermal melanocytosis without the other described features. Nevus unius lateralis is synonymous with extensive epidermal nevus. ANOLM are seen in Asian adult women and hypermelanosis of Ito does not have a vascular component.

All of the following diagnoses may present with a blueberry muffin baby, EXCEPT:

A. Bednar tumor

B. Hereditary spherocytosis

C. Parvovirus B19

D. Alveolar rhabdomyosarcoma

E. Neuroblastoma

A. Bednar tumors or pigmented dermatofibrosarcoma protuberans are rarely congential and usually solitary. The blueberry muffin baby presentation may occur in association with infectious (TORCH, parvovirus), neoplastic (neuroblastoma, leukemia, rhabdomyosarcoma) or other hematologic associations (spherocytosis, Blood/Rh incompatibility, myelodysplasia).

Recalcitrant innumerable molluscum and verrucae vulgaris lesions may be present in a patient in which of the following underlying diagnoses?

A. WHIM syndrome

B. Hypohidrotic ectodermal dysplasia with immunodeficiency

C. Leukocyte adhesion deficiency

D. Hyper IgD with periodic disease

E. Naegeli-Franschetti-Jadassohn syndrome

A. WHIM (Warts, Hypogammaglobulinemia, Infection, Myelokathexis) syndrome is an immunodeficiency caused by mutations in CXCR4 which may feature extensive cutaneous viral eruptions. Leukocyte adhesion deficiency features pyoderma and slow wound healing; HED-ID is associated with NEMO mutation, HIDS is a periodic fever syndrome related to mevalonate kinase, and Naegeli Franschetti Jadassohn is a reticulated pigmentary disorder caused by mutations in keratin 14. None of them have this finding as a prominent symptom. Immunodeficiency should be considered in patients with overwhelming cutaneous viral infections.

The coexistence of 2 nevi such as nevus anemicus and nevus flammeus is thought to arise from the mosaic phenomenon termed:

A. Koebnerization


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