Spreading Vesicles in a Neonate

Abstract

A 13-day-old girl with no past medical history presented for evaluation of pus bumps since birth. The rash initially appeared on her hands, then gradually spread to her limbs and torso, with crusting of the oldest lesions. Parents deny complications during pregnancy and delivery. The mother of the patient was diagnosed with incontinentia pigmenti as a child. Physical examination revealed a calm, well-developed, and well-nourished infant with multiple vesicles in a linear and Blaschkoid pattern with underlying erythema to all 4 extremities and a few scattered lesions to the back, scalp, and right labia majora (Figure 1 and Figure 2). No mucosal involvement or hypermelanosis was noted. Given the maternal history of incontinentia pigmenti and physical examination, the patient was given the diagnosis of incontinentia pigmenti. A consult was placed for ophthalmology with a follow-up at 4 weeks in our dermatology clinic.Figure 1Anterior view of well-developed infant with multiple vesicles and underlying erythema presenting in a linear and Blaschkoid pattern.View Large Image Figure ViewerDownload Hi-res image Download (PPT) Incontinentia pigmenti, or Bloch-Sulzberger syndrome, is an X-linked dominant disorder of ectodermal dysplasia with a birth prevalence of 1 in 143 000.1Wang R. Lara-Corrales I. Kannu P. Pope E. Unraveling incontinentia pigmenti: a comparison of phenotype and genotype variants.J Am Acad Dermatol. 2019; 81: 1142-1149Abstract Full Text Full Text PDF PubMed Scopus (12) Google Scholar Approximately 80%-90% of affected individuals have deletions of exons 4-10 on the IKBKG gene, causing an array of skin, eye, teeth, hair, nail, and central nervous system anomalies.1Wang R. Lara-Corrales I. Kannu P. Pope E. Unraveling incontinentia pigmenti: a comparison of phenotype and genotype variants.J Am Acad Dermatol. 2019; 81: 1142-1149Abstract Full Text Full Text PDF PubMed Scopus (12) Google Scholar Cutaneous manifestations present along Blaschko lines, tend to spare the face, and appear within the first weeks of life. Incontinentia pigmenti is classified into the following 4 sequential and overlapping stages: (1) vesicular (our patient), (2) verrucous, (3) hyperpigmented, and (4) hypopigmented.2Minić S. Trpinac D. Obradović M. Incontinentia pigmenti diagnostic criteria update.Clin Genet. 2013; 85: 536-542Crossref PubMed Scopus (101) Google Scholar The onset, duration, and number of stages reached vary among incontinentia pigmenti patients.2Minić S. Trpinac D. Obradović M. Incontinentia pigmenti diagnostic criteria update.Clin Genet. 2013; 85: 536-542Crossref PubMed Scopus (101) Google Scholar One case reports a neonate in the verrucous stage having completed the vesicular stage in utero.3Osório F. Magina S. Nogueira A. Azevedo F. Incontinentia pigmenti with vesicular stage.Dermatol Online J. 2010; 16: 13Crossref PubMed Google Scholar Although sometimes subtle, differences between incontinentia pigmenti and the following differential diagnoses can be determined on physical examination. Unlike incontinentia pigmenti, epidermolysis bullosa most often induces blisters in areas of increased friction or trauma, such as the extremities and diaper distribution. Varicella zoster presents as scattered vesicles in various stages of healing. Molluscum contagiosum initially appears as scattered dome-shaped papules with eventual central umbilication. Linear epidermal nevi also present along lines of Blaschko, but as skin-colored to brown patches or verrucous papules with no extracutaneous involvement. The clinical evaluation of patients with incontinentia pigmenti may also reveal alopecia, nail dystrophy, hypodontia, delayed dentition, conical teeth, strabismus, cataracts, conjunctival pigmentation, retinal detachment, and vision loss.4Hadj-Rabia S. Froidevaux D. Bodak N. Hamel-Teillac D. Smahi A. Touil Y. et al.Clinical study of 40 cases of incontinentia pigmenti.Arch Dermatol. 2003; 139: 1163-1170Crossref PubMed Scopus (159) Google Scholar Although diagnosis is made clinically, molecular genetic evaluation can confirm diagnosis and offer prognostic insight. Patients without an identifiable IKBKG mutation have a less severe phenotype than patients with the mutation.1Wang R. Lara-Corrales I. Kannu P. Pope E. Unraveling incontinentia pigmenti: a comparison of phenotype and genotype variants.J Am Acad Dermatol. 2019; 81: 1142-1149Abstract Full Text Full Text PDF PubMed Scopus (12) Google Scholar Histology may be used to differentiate between the presence of eosinophilic infiltrates in the vesicular stage from the sparse eosinophils in the verrucous stage, but is otherwise unhelpful.3Osório F. Magina S. Nogueira A. Azevedo F. Incontinentia pigmenti with vesicular stage.Dermatol Online J. 2010; 16: 13Crossref PubMed Google Scholar Treatment of incontinentia pigmenti is guided by the organ systems affected, with ocular and nervous system involvement being the most worrisome. Skin lesions typically do not require treatment but should be monitored for signs of secondary infection, especially in the vesicular stage.