Multiple Clinical Manifestations and Diagnostic Challenges of Incontinentia Pigmenti—12 Years' Experience in 1 Medical Center

Abstract

Diagnosis of IP is difficult in the neonatal period. Referral to experienced specialists is necessary. Multiple clinical characteristics of IP and rapid progression of ophthalmologic manifestations can be demonstrated through our study. Furthermore, 3 of the 4 cases in our study are the very first reports in Taiwan.

Bloch-Sulzberger syndrome: a

“…The perinatal incidence of IP is estimated at a level of 1 to 50 000 births, but it is probably higher. The disease is difficult to diagnose by non-dermatologists as it is sometimes confused with usually infectious conditions, such as HSV, BI or erythema toxicum [1,17,21]. The underlying defect in IP is a mutation in the essential modulator gene (NEMO), which results in the loss of activity of the regulatory component of the IκB kinase (IKK) complex encoded by the NEMO/IKKγ gene.…”

“…Epidermal birthmarks are not preceded by the onset of vesicles. In the pigmentary stage, sites of hyperpigmentation are uniquely arranged in whorls, which is why IP is unlikely to be confused with other causes of hyperpigmentation/discoloration of the skin [1][2][3][4].…”

“…According to Jessup et al, tacrolimus halted the progression of the disease through its subsequent disfiguring stages [32]. Even though systemic and topical antibiotics may show anti-inflammatory effects on the level of the skin, they are not effective in the course of IP, except for lesions with secondary bacterial infection [1,8]. In patients with solitary STIP, the first-line treatment is surgical excision, though multiple new lesions appear in other locations.…”

“…Incontinentia pigmenti (IP, Bloch-Sulzberger syndrome) is a very rare X-linked dominantly inherited genodermatosis predominant among females as it is usually lethal in males [1][2][3][4][5][6]. There are however single reports of male patients with IP and XXY karyotype [7,8].…”

“…Dermatologic manifestations are among the most important signs of IP as skin lesions observed in almost all individuals with IP are relatively easy to diagnose [1][2][3][4]. Fortunately, skin lesions are the least damaging aspect of the disease and actually do not require any treatment as spontaneous resolution of lesions is one of the features of the disease.…”