Journal ArticleDOI
Incontinentia pigmenti. A world statistical analysis.
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TLDR
This work reviewed 464 references from the world literature and found 653 apparently valid reports of patients with incontinentia pigmenti, which is an uncommon genodermatosis that usually affects female infants.Abstract:
• Incontinentia pigmenti (Bloch-Sulzberger syndrome) is an uncommon genodermatosis that usually affects female infants. I reviewed 464 references from the world literature and found 653 apparently valid reports of patients with incontinentia pigmenti. Skin manifestations were found to be somewhat more common than previously reported, and systemic manifestations were found in 79.8% of the patients. (Arch Dermatol112:535-542, 1976)read more
Citations
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Journal ArticleDOI
NEMO/IKKγ-Deficient Mice Model Incontinentia Pigmenti
Marc Schmidt-Supprian,Wilhelm Bloch,Gilles Courtois,Klaus Addicks,Alain Israël,Klaus Rajewsky,Manolis Pasparakis +6 more
TL;DR: The results indicate that the mouse model for the human genetic disorder incontinentia pigmenti, together with the recent discovery that mutations in the human NEMO gene cause IP, is created.
Journal ArticleDOI
Female Mice Heterozygous for IKKγ/NEMO Deficiencies Develop a Dermatopathy Similar to the Human X-Linked Disorder Incontinentia Pigmenti
Constantin Makris,Virginia Godfrey,Gertraud Krähn-Senftleben,Takayuki Takahashi,Jaclyn L. Roberts,Thomas Schwarz,Lili Feng,Randall S. Johnson,Michael Karin +8 more
TL;DR: It is proposed that the IKK gamma/NEMO-deficient cells trigger an inflammatory reaction that eventually leads to their death, and this unique self-limiting disease, the first to be genetically linked to the Ikk signaling pathway, is dependent on X-chromosome inactivation.
Journal ArticleDOI
Incontinentia pigmenti (Bloch-Sulzberger syndrome).
S J Landy,Dian Donnai +1 more
TL;DR: The name incontinentia pigmenti describes the characteristic, albeit non-specific, histological feature where there is incontinence of melanin from the melanocytes in the basal layer of the epidermis into the superficial dermis.
Journal ArticleDOI
Lines of Blaschko
TL;DR: The clinical and histologic features of X-linked, congenital/nevoid, and acquired skin diseases that follow Blaschko's lines are reviewed.
Journal ArticleDOI
Severe Idiopathic Constipation Is Associated With a Distinctive Abnormality of the Colonic Myenteric Plexus
Shoba Krishnamurthy,Shoba Krishnamurthy,Michael D. Schuffler,Michael D. Schuffler,Charles A. Rohrmann,Charles A. Rohrmann,Charles E. Pope,Charles E. Pope +7 more
TL;DR: Severe idiopathic constipation is associated with a pathologically identifiable abnormality of the myenteric plexus, which appears different from anything previously described in intestinal pseudoobstruction.
References
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Journal ArticleDOI
On incontinentia pigmenti and differentiation of two syndromes appearing under the same name
A Franceschetti,W Jadassohn +1 more
Journal ArticleDOI
Incontinentia pigmenti (bloch-sulzberger): report of an additional case, with comment on possible relation to a new syndrome of familial and congenital anomalies
TL;DR: In 1928 one of the present authors reported and discussed the first case of the rare and peculiar dermatosis incontinentia pigmenti, and at the tenth meeting of the Swiss Dermatologic Society Naegeli reported three analogous cases.
Journal ArticleDOI
INCONTINENTIA PIGMENTI: A Report of Five Cases and Review of the Literature
TL;DR: The pigmentary anomaly is frequently heralded by inflammatory lesions, particularly bullae, in lines and patches, which disappear and recur for weeks or months and then finally give way, either to the pigmented macules directly or to an intermediate temporary stage of linear verrucous lesions which gradually fade.
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