Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a. Familial incontinentia pigmenti (IP) is a genodermatosis that segregates as an X- linked dominant disorder and is usually lethal prenatally in males (The. Download PDF. 1 / 2 Pages. Previous article. Go back to website. Next article.
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Incontinentia pigmenti in month old Afro-Caribbean fraternal twin girls. Un reporte de caso. Incontinentia pigmenti is a rare X-linked dominant condition characterized by cutaneous, neural, ocular and dental manifestations. The condition has mainly been reported in Caucasian females.
The aim of this case report is to highlight the clinical presentation in Afro-Caribbean twin girls. The girls demonstrated abnormal hair distribution, pigmented limbs and torso, small conical or missing teeth with delayed dental eruption. Caribe, dental, incontinencia pigmentaria. Incontinentia pigmenti is a rare X-linked disorder considered to be a syndrome of multisystem polydysplasias, commonly affecting the skin, eyes, central nervous system and teeth.
The prevalence of incontinentia pigmenti is unknown 2 but the frequency is estimated at 1: The condition is usually lethal in utero for males. The majority of the reported cases worldwide occur in Caucasian females. More than half the documented cases had a positive family history for incontinentia pigmenti 2, 3.
OMIM Entry – # – INCONTINENTIA PIGMENTI; IP
Clinical manifestations of the disease vary widely, even among family members 4, 5. Dermatologic findings are most often the first observed sign of incontinentia pigmenti. The natural history of the disease describes cutaneous involvement as following four stages: Stage 3 is visible from 12 to 26 weeks and is characterized by hyperpigmentation.
Stage 4 is entered incontinejcia and usually persists into adulthood as streaky hypopigmented or atrophic areas on the lower limbs that usually fade with time All cutaneous lesions follow the Lines of Blaschko pigmentraia may be ‘S’, ‘V’ or ‘U’ shaped patterns on the skin of the trunk and extremities.
Hypodontia, microdontia as pegged and conically shape teethdelayed eruption and accessory cusps are frequently reported and both primary and permanent dentitions may incontinenci affected. To the authors’ knowledge, this is the first documented case of incontinentia pigmenti in Trinidad and Tobago and indeed the Caribbean.
This case reports on month old fraternal female twin girls of Afro-Caribbean descent presenting for dental consultation to a dental hospital in Trinidad. Twenty-two-month old twins A and B presented to the Child Dental Health Clinic of the University of the West Indies Dental Hospital with their mother and grandmother who were concerned about the relatively few teeth present in the children’s mouths at that age and also the abnormal shape of the existing teeth.
A comprehensive medical history revealed that the twin girls were diagnosed with incontinentia pigmenti soon after birth. The mother reported that pregnancy was uneventful and without complications. The girls were up-to-date with immunizations. There was no history of central nervous system problem, however, recurrent eye infection and epiphora watering of eyes were the ocular symptoms in twin B.
The girls are still undergoing investigations on the cardiovascular system, as preliminary reports indicate some cardiac rhythmic anomalies Table. There is no positive family history of this condition.
Upon examination, striated pigmentation was noted on the perioral region, the ears, hands, arms and the torso and legs. The girls had very thin eyebrows and sparse eyelashes.
Vertex alopecia was noticeable Figs. The parent reported that there had been a significant subjective improvement in the hair growth and skin lesions over the past six months. Intraoral examination revealed notably thin alveolar ridges, especially in the posterior upper and lower regions.
The teeth present are represented below: Clinical photographs taken of Twin A are shown in Figs. Clinical photographs taken of Twin B are shown in Figs.
No radiographic examination was undertaken. It has been well documented that there is an increased incidence of missing teeth in this condition. There was no justification for radiographic exposure of the twins at such a young age to confirm the absence of teeth.
The diagnosis of incontinentia pigmenti relies heavily on the identification of the early cutaneous signs and an ability to distinguish the condition from other very similar conditions such as syphilis, ectodermal dysplasia, herpes simplex, impetigo, Langerhans cell histiocytosis, verrucous vulgaris and Goltz syndrome.
However, in the local setting, ready access to this valuable tool may be plgmentaria limiting factor. Thus, many cases may go undiagnosed or misdiagnosed. The early diagnosis of incontinentia pigmenti and subsequent assessment of medical factors can impact on the long-term prognosis of each case. In the absence of ophthalmic and central nervous system involvement, the onus is now to monitor and manage the cutaneous and dental manifestations as may be required.
The significant absence and malformation of teeth can affect proper facial development, mastication, speech development, appearance and self-esteem in the growing child 4. Parents should be made plgmentaria of the common occurrence of late eruption and missing teeth and the effects on the developing dentition. It is also important to ensure that the nutritional needs are being met 4, 6. The practice of thorough oral hygiene methods and healthy eating habits should be encouraged to help preserve the existing dentition for as long as possible.
Although parents may have high expectations with respect to the provision of dentures so that appearance and esteem are improved, the various difficulties and challenges encountered in the provision of prostheses for such cases should be discussed. With parental support and an integrated and multidisciplinary approach, optimal results in aesthetics and function may be achieved 5, 6. It is proposed that review be undertaken every six months or sooner, if required.
Any siblings should incontinenica be examined for dental anomalies. It may be prudent that genetic counselling be offered. Psychological support should also be available for the growing girls and their parents 6. Incontinentia pigmenti has significant dental manifestations requiring long-term follow-up and a multi-disciplinary approach to the management of afflicted patients to provide a functional and aesthetic dentition.
We acknowledge that the availability of genetic testing to confirm the diagnoses of incontinentia pigmenti may lead to significant under-reporting pigmentqria the condition in Trinidad and Tobago. Dermatology Online Journal ; Incontinentia pigmenti – a systemic genodermatosis with striking cutaneous findings.
pigmenaria Clin Paediatr ; A world statistical analysis. Arch Dermatol ; J AmAcad Dermatol ; Incontinentia pigmenti presenting as hypodontia in a 3-year-old girl: J Med Case Rep ; 3: Macey-Dare L, Goodman J.
Int J Paediatr Dent ; 9: Textbook of syndromes of the head and neck. Vesicularpostular diseases of neonates and infants. Curr Opin Pediatr ; 6: Services on Demand Article. Article in pdf format Article incontinrncia xml format Article references How to cite this article Automatic translation Send this article by e-mail.
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