Incontinentia pigmenti – case report

Abstract

Incontinentia pigmenti (IP) is a rare, X-linked, dominant genodermatosis, caused by a mutation in IKBKG gene, which activates NF-kB, a transcription factor involved in immune and inflammatory reactions, cellular growth, and apoptosis. The prevalence of disease is approximately 0.7/100000, it is usually lethal in males during embryogenesis, and females survive due to functional mosaicism, resulting from selective inactivation of an X chromosome through lyonization. Cutaneous manifestations of IP are divided into four evolutionary stages which can overlap. Stage I (Inflammatory) manifests with vesiculobullous lesions on an erythematous base. Stage II (Verrucous) expresses with warty papules and plaques. Stage III (Hyperpigmented) manifests as grey, hyperpigmented plaques. Stage IV (Hypopigmented) shows as pale, hairless linear patches and plaques devoid of sweat glands. This study aims to present a rare case of Incontinentia Pigmenti diagnosed late in a 13-year-old patient, highlighting the importance of early recognition of symptoms and the need for an appropriate diagnostic and management strategy. Case presentation We present the case of a 13-year-old female patient. The baby is born from the 3rd pregnancy, 2nd birth within the normal range of anthropometric criteria. From the first days of life the child developed a vesiculobullous rash and was hospitalized with the diagnosis: “Bullous dermatitis. Toxic erythroderma. Neonatal jaundice”, despite the treatment received, the lesions have not regressed. Until the age of 13, the patient was monitored by the dermatologist and allergist for: “Toxic-allergic dermatitis”, “Bullous dermatitis. Toxic erythroderma”, “Treatment-refractory allergic dermatitis”, “Epidermolysis bullosa”, “Linear verrucous epidermal nevus”. The presumptive diagnosis of Incontinentia Pigmenti was not mentioned. At the time of physical examination, the patient was presented with warty papules and plaques, well defined, purple in color, in a linear distribution at the level of calves. At the level of arms and limbs, pale, atrophic, hairless linear patches were observed; in some places, single violet-gray hyperpigmented linear patches were seen with a distribution along the Blashko lines. On the scalp, in the vertex region there were alopecia foci, the skin at this level was pale, and atrophic. Longitudinal striations were observed on the nails of the hands and feet. Discussion The diagnosis of Incontinentia Pigmenti was established on the basis of medical history and specific clinical picture using the diagnostic criteria (Major Criteria: Typical neonatal rash in the form of erythema and vesicular-bullae, presence of verrucous papules along the Blaschko lines; Hyperpigmented lesions along the Blaschko lines; Linear, atrophic, hairless lesions on the upper and lower limbs as well as scarring alopecia at the vertex. Minor criteria: nail dystrophy.) Conclusion This case is included in the category of the rarest congenital skin diseases, being of both clinical and scientific interest. Although the diagnosis of Incontinentia Pigmenti is based on major and minor clinical criteria, until the age of 13 years this pathology was not suspected. It is necessary to implement a diagnosis and management strategy, as soon as the first symptoms are observed in female neonates and long-term follow-up of children is essential.