[Incontinentia pigmenti].
نویسندگان
چکیده
Four new cases of incontinentia pigmenti are presented, including chromosome studies of one family. An increased number of chromosome breakages was found in the blood of affected as well as unaffected members of this family.
منابع مشابه
Incontinentia Pigmenti
Incontinentia pigmenti (IP) is an uncommon X-linked dominant genodermatosis characterized by four cutaneous stages and frequent association with dental (90%), central nervous system (33%) and ocular (35%) anomalies. The exact pathogenesis of this disorder remains unknown.Herein, we report a newborn girl with inflammatory vesiculobullous and warty skin lesions and a positive family history of IP...
متن کاملگزارش یک مورد Incontinentia pigmenti
سابقه و هدف: (IP) Incontinentia pigmenti یا سندرم Bloch-Sulzberger اولین بار توسط Garrod در سال 1906 معرفی گردید. سپس، در سال 1926 توسط Bloch و در سال 1927 توسط Sulzberger گزارش شد. این بیماری یک بیماری ژنتیکی پوستی است که از نظر توارث وابسته به جنس غالب می باشد. ماکول های نامنظم، شیر قهوه ای یا خاکستری یا ضایعات آتروفیک، فرورفته و دپیگمانته از علایم پوستی این بیماری می باشند. هدف مقاله حاضر مع...
متن کاملA Case Report of Incontinentia Pigmenti in a Newborn with Positive Family History Extending Over Three Generations
Background: Incontinentia pigmenti (IP), also known as Bloch-Sulzberger syndrome, is a rare X-linked dominant genodermatosis that presents at the time of birth or soon after birth with cutaneous manifestation. This disorder may also affect the ectodermal tissues, such as the central nervous system, skeletal system, eyes, hair, nails, and teeth. The dermatological findings occur in four successi...
متن کاملA Case Study of Hypomelanosis of Ito
Among nevoid causes of hypopigmentations; incontinentia pigmenti achromians (Hypomelanosis of Ito) is a neurocutaneous syndromes characterized by distinctive macular, linear or irregular whorls or swirls of Hypopigmentations. Unrelated to incontinentia pigmenti, the loss of pigment begins spontaneously during infancy or early childhood and is of Particular importance because of the falt that m...
متن کاملIncontinentia pigmenti: a rare genodermatosis in a male child.
Incontinentia pigmenti is rare X-linked dominant disorder. There is no consistent expression of Incontinetia pigmenti in female child, but in male child, they always lead to death in utero. Vesicular, verrucous, hyperpigmented, and atrophic stages are the four stages of Incontinetia Pigmenti and it is uncommon for all stages to be seen in a same case. It is a rare genodermatosis, with only very...
متن کاملIKBKG Mutation With Incontinentia Pigmenti and Ring-Enhancing Encephalopathy.
IKBKGMutationWith Incontinentia Pigmenti and Ring-Enhancing Encephalopathy Incontinentia pigmenti (IP, Bloch-Sulzberger syndrome) is an X-linkeddominantgenodermatosis affectingskinandotherorgans, including the brain, with variable expressivity. Incontinentia pigmenti results frommutations in the inhibitor of κ-βkinase-γ gene (IKBKG),which is locatedonXq28.Deletions in this gene result in loss o...
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ورودعنوان ژورنال:
- Prensa medica argentina
دوره 45 27 شماره
صفحات -
تاریخ انتشار 1958