Incontinentia Pigmenti : A Case Report

Incontinentia pigmenti is a rare X-linked dominant condition characterized by abnormalities in skin, eyes, teeth, bones and the central nervous system. A seven year old female child presented to the Dermatology Out Patient Department (OPD) of Bir Hospital with vesicles, bullae, verrucous papules and plaques and hypopigmented streaks on the trunk and extremities of six years duration. Based on the clinical findings she was diagnosed as a case of Incontinentia pigmenti. DOI: http://dx.doi.org/10.3126/jnps.v33i1.7126 J Nepal Paediatr Soc. 2013;33(1):57-60


Introduction
I ncontinentia pigmenti, also known as Bloch- Sulzberger disease, is a rare X-linked dominant condition characterized by abnormalities in skin, eyes, teeth, bones and the central nervous system. .It appears most commonly in girls.There are four stages of the disease: vesicular; verrucous; hyperpigmented and hypopigmented.Here we present a case of Incontinentia Pigmenti in which all the stages of the disease were present, as, it is not a common presentation in our OPD.

The Case
A seven year old female child from Jumla District (a part of Karnali Zone, situated in the mid-western part of Nepal), studying in grade one presented with multiple vesicles, bullae, hyperkeratotic papules and hypopigmented patches all over the body of fi ve years duration.According to the patient's father, the child was a full term normal home delivery.At the age of two year they noticed a warty plaque at the medial aspect of left ankle joint which was preceded by vesicles.Gradually she started developing similar lesions on different parts of the body which would start as vesicles and bullae, then become hyperkeratotic and some lesions became hyperpigmented or hypopigmented.The lesions are still increasing in size.
The father of the patient was married twice.He has four children from the fi rst wife; one son and three daughters.All are healthy.From the second wife, he had fi ve children: two sons and three daughters but the 1st child, which was a male, died 2 to 4 months after birth.
Cause of death was not known.Our patient is the third from his second wife.All the other siblings are healthy.There is no parental consanguinity.There is no history of similar skin lesions in her family or fi rst degree relatives.
On physical examination, the patient is of average built weighing 25 kgs.Her systemic examination was normal.On cutaneous examination, there were multiple vesicles, bullae, erosions on different parts of the body as well as verrucous hyperkeratotic papules and plaques, hyper-and hypopigmented streaks distributed in bizarre pattern following the lines of Blaschko.The lesions were more on the trunk and extremities.Head and neck, palms and soles were spared [Figure 1 and 2].However there were no extracutaneous manifestations like the teeth, CNS, bone and eye changes.
The haematological parameters were within normal limits.Histopathological examination showed keratinized stratifi ed squamous epithelium showing verrucous acanthosis, compact hyperkeratosis, spongiosis within the spinous layer and foci of intraepidermal keratinization.Reduced melanin along with vacuolations was noted in the basal cells in some foci.Eosinophils were found in the upper dermis and few within the epidermis.The dermis was infi ltrated by mixed infl ammatory cells.Few melanin pigments were also noted within the dermis.The secondary infections were treated with oral cefadroxil 250 mg x bid x 7 days and topical fusidic acid.

Discussion
Incontinentia pigmenti also known as Bloch-Sulzberger syndrome or Bloch-Siemens syndrome is a rare and complex hereditary syndrome in which vesicular, verrucous and pigmented cutaneous lesions are associated with developmental defects of the teeth, eye, bone and CNS 1 .This syndrome mainly affects females 2,3 and is lethal in males 4 .
The genetic defect lies on the X chromosome, localized to Xq28.It is related to the NF kappa B essential modulator (NEMO) gene 5,6 .Rabia HS et.al has reported 25 adults with IP and nuclear factor-κB essential modulator gene rearrangement or mutations 7 .
Four distinct clinical stages are recognized 8  Stage 1 usually begins between 0-2 weeks of age and persists for 2 months.Stage 2 usually starts between the second and sixth week of life.The pigmentary stages usually starts between the 12 th and 26 th week of life, which progresses upto the 2 nd year and fades by the 2 nd and 3 rd decade of life 9 .
Hair changes may be seen at the vertex in the form of cicatricial alopecia.
Nail changes may also be present in cases with incontinentia pigmenti 10 .Aggarwal K, Jain VK, Dayal S has reported a case of incontinentia pigmenti, with nail dystrophy and onycholysis 11 .
The extracutaneous manifestations are seen in more than half of the patients with incontinentia pigmenti: 1. Dental defects can be seen in the form of partial anodontia, pegged teeth and missing teeth, particularly the upper lateral incisors and the premolars 12,13 .
Leukocytosis and eosinophilia 21 are common fi ndings.Histopathological features differs with the clinical stage of the disease.In the fi rst stage, there are intraepidermal vesicles with eosinophilic spongiosis.In the second stage, there is acanthosis, hyperkeratosis and papillomatosis with persistent presence of necrotic keratinocytes and the fi nal stages of pigmentation is due to melanin in melanophages in the upper dermis.

Conclusion
Incontinentia pigmenti should be differentiated from linear and whorled nevoid hypermelanosis, epidermolysis bullosa and childhood bullous pemphigoid, Naegeli-Franceschtti-Jadassohn syndrome and incontinentia pigmenti achromians 22 .Treatment is not necessary other than the control of secondary infection as the lesions spontaneously subside in adulthood.