Question:

A 1-week-old girl presents with her mother to the dermatologist for the following rash on her right leg that has been present since birth. Which of the following other specialties would it be important to involve in the patient's care? (hint: there may be more than one correct answer)

Answers:

A. Infectious disease team

B. Child abuse team/authorities

C. Ophthalmologist

D. Neurologist

E. Dentist

F. Cardiologist

G. Gastroenterologist

Rationale:

Incontinentia pigmenti (IP) is an X-linked dominant genetic disorder that is typically lethal in males caused by a mutation in the NEMO gene. IP presents within the first few weeks of life and can be present at birth. 4 characteristic cutaneous stages occur in succession: vesicular, verrucous, hyperpigmented, and hypopigmented. Although individual lesions progress through these four sequential stages, lesions from different stages may be present at the same time. The vesicular phase is characterized by linear vesicles/plaques in a Blashkoid distribution as seen in the vignette above. Patients frequently have ocular involvement, neurologic involvement, and issues with hair/nail/teeth development. Correct identification of the cutaneous findings and early diagnosis can help facilitate referrals to the appropriate care teams. 

Correct answers: C, D, E

Many patients with IP develop early seizures and intellectual delay. Ocular involvement typically stems from retinal ischemia and the sequela that follow such as neovascularization, retinal detachment, or hemorrhage. Alopecia is commonly observed; wooly hair and nail dystrophy may be observed. Patients may have dental issues such as hypodontia or conical teeth. Pediatric neurologists, ophthalmologists, and dentists are important specialists who should be involved in every patient's care to help monitor for and treat extracutaneous findings in IP. 

Incorrect answers: A, B, F, G

IP is not infectious although vesicular rashes in the newborn should raise concern for possible herpetic infections. The findings in the vignette are not consistent with trauma/child abuse. IP does not typically affect the heart or GI tract although pulmonary hypertension has been reported. 

Additional reading and photographs at Fitzpatrick's Dermatology Chapter 103: Neonatal Dermatology and Weinberg's Color Atlas of Pediatric Dermatology Section 14: Genodermatoses.

Yadlapati S, Tripathy K. Incontinentia Pigmenti (Bloch-Sulzberger Syndrome) [Updated 2023 Aug 25]. In: StatPearls. Treasure Island (FL): StatPearls Publishing. https://www.ncbi.nlm.nih.gov/books/NBK578194/