The Men behind Incontinentia Pigmenti

Abstract

Incontinentia pigmenti (IP), listed in the Online Inheritance of Man (OMIM), under the number (#308300), is an x-linked dominant condition that affects skin, teeth, eyes and may also have neurological problems. The IP name describes the histological characteristics, the incontinence of melanin into the melanocytes cells in the epidermal basal layer and its presence in superficial dermis [1,2]. Garrod reported the first probable case of incontinentia pigmenti in 1906 and described it as a peculiar pigmentation of the skin in an infant with mental deficiency and tetraplegia. Subsequently, Bloch and Sulzberger further defined the condition in 1926 and 1928, respectively, as a clinical syndrome. Hermann Werner Siemens (1891-1969), is a German dermatologist, who also, contributed to the description of this disease and his name is also linked to the eponyms of this disease. IP is caused by mutations in the NEMO (NF-κB essential modulator) gene, the protein product of which protects against tumor necrosis factor-α-induced apoptosis. Between 900 and 1,200 affected individuals have been reported in the scientific literature. Most of these individuals are female. Cutaneous findings are the most common manifestation of IP and usually represent the presenting signs. They are divided into four overlapping stages: (1) vesiculobullous, which favors the extremities during the first few months of life (but occasionally recurs during childhood in association with a febrile illness); (2) verrucous, which favors the distal extremities in patients one to six months of age (and sometimes adolescents); (3) hyperpigmented, which favors the trunk and intertriginous sites from three months of age through adolescence; and (4) hypopigmented/atrophic, which affects the calves in adolescents and adults [1,2]. The extracutaneous manifestations of IP, which are less frequent than are the skin findings, are more likely to cause morbidity. These include dental abnormalities (such as small teeth or few teeth), eye abnormalities that can lead to vision loss, and central nervous system (CNS) abnormalities also occur in one-third of IP patients and can include seizures, developmental delay, and spastic paresis. However, most people with incontinentia pigmenti have normal intelligence. Infants with IP should be referred to a pediatric ophthalmologist for evaluation and close follow-up. In addition, neurodevelopmental status should be monitored, and a pediatric neurologist consulted if problems arise [1,2]. Early dental intervention is also recommended. Incontinentia Pigmenti International foundation (IPIF) is a voluntary nonprofit organization founded in 1995. Its mission is to encourage and support research on IP, and to provide family support and education. Further details about this organization can be seen at its official website, http:// www.ipif.org/ There are several synonyms for IP. These includes Bloch– Siemens syndrome, Bloch–Sulzberger disease, Bloch– Sulzberger syndrome, Bloch-Siemens-Sulzberger Syndrome, melanoblastosis cutis, melanoblastosis cutis linearis, nevus pigmentosus systematicus, and pigmented dermatosis, Siemens-Bloch type. However, Bloch–Sulzberger syndrome, is the most common eponym for this disorder, I am going to highlight on the dermatologists behind this eponym.