Incontinentia Pigmenti: A Rare Genodermatosis in a Male Child
نویسندگان
چکیده
منابع مشابه
Incontinentia 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 کاملIncontinentia pigmenti or Bloch-Sulzberger syndrome: a rare X-linked genodermatosis*
Incontinentia pigmenti is a rare X-linked genodermatosis that affects mainly female neonates. The first manifestation occurs in the early neonatal period and progresses through four stages: vesicular, verruciform, hyperpigmented and hypopigmented. Clinical features also manifest themselves through changes in the teeth, eyes, hair, central nervous system, bone structures, skeletal musculature an...
متن کاملA Case of a Surviving Male Infant with Incontinentia Pigmenti.
Incontinentia pigmenti (Bloch-Sulzberger's disease) is an X-linked dominantly inherited disorder which is usually lethal in hemizygous males, but rarely found in male infants. It can be explained by the presence of an extra X chromosome (Klinefelter's syndrome), hypomorphic mutations, and somatic mosaicism. We herein report a rare case of incontinentia pigmenti with typical course of skin manif...
متن کاملIncontinentia pigmenti in a child with suspected retinoblastoma
BACKGROUND Incontinentia pigmenti is a rare X-linked dominant syndrome caused by mutation in the NEMO/IKKgamma gene, and characterized by a spectrum of cutaneous, ocular, neurologic and dental abnormalities. In the eye, findings include retinal vascular non-perfusion, occasionally with traction retinal detachment, retinal fibrosis, and retinal pigment epithelium defects. These findings can rese...
متن کاملGonadal mosaicism for incontinentia pigmenti in a healthy male.
Incontinentia pigmenti (IP) is a genodermatosis that segregates as an X linked dominant trait with male lethality. The disease has been linked to Xq28 in a number of studies. A few affected males have been documented, most of whom have a 47,XXY karyotype. We report a family with two paternally related half sisters, each affected with IP. The father is healthy, clinically normal, and has a 46,XY...
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ژورنال
عنوان ژورنال: JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH
سال: 2015
ISSN: 2249-782X
DOI: 10.7860/jcdr/2015/12171.5561