PubMed · 4940941
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R Berger. 1971-10-23. [Trisomy 13].. https://pubmed.ncbi.nlm.nih.gov/4940941/
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BACKGROUND: Incontinentia pigmenti (IP; Bloch-Sulzberger syndrome) is an inherited disorder of skin pigmentation that is associated with skin (100%), dental (90%), skeletal (40%), central nervous (40%) and ocular (35%) abnormalities. The pathogenesis is not yet known. The disease is usually seen in females, as it is an X-linked dominantly inherited disease which is lethal in males. PATIENT PRESENTATION: We present a 9-year-old girl with the classical general and ocular signs of IP. She presented in early childhood with inflammatory vesicular skin changes which changed into pigmented skin alterations especially on the trunk. Ocular findings were microphthalmia and retrolental mass formation in one eye and retinal pigmentary changes in the other. In our patient, the spontaneous mutation may have been caused by the family's close neighbourhood to Semipalatinsk, Kasachstan, where regular nuclear tests took place very shortly before the pregnancy with our patient began. DISCUSSION: Ocular involvement is described in about a third of persons affected with IP. A nearly consistent and pathognomonic finding is a pigment retinopathy (mottled diffuse hypopigmentations). A further consistent finding are abnormalities of peripheral retinal vessels with areas of non-perfusion in the outer retina. The retinal pigment epitheliopathy and the abnormalities of retinal vessels are thought to be the underlying pathognomonic findings, with all other ocular signs being secondary (cataract, leucocoria, optic atrophy, strabismus, nystagmus and microphthalmus). Exudative retinal detachment occurs only in a minority, usually in very early childhood, when the skin lesions are exudative as well. IP patients should, however, be clinically observed regularly because of their retinal pigmentary changes.
SOCS-1, a member of the suppressor of cytokine signaling (SOCS) family, was identified in a genetic screen for inhibitors of interleukin 6 signal transduction. SOCS-1 transcription is induced by cytokines, and the protein binds and inhibits Janus kinases and reduces cytokine-stimulated tyrosine phosphorylation of signal transducers and activators of transcription 3 and the gp130 component of the interleukin 6 receptor. Thus, SOCS-1 forms part of a feedback loop that modulates signal transduction from cytokine receptors. To examine the role of SOCS-1 in vivo, we have used gene targeting to generate mice lacking this protein. SOCS-1(-/-) mice exhibited stunted growth and died before weaning with fatty degeneration of the liver and monocytic infiltration of several organs. In addition, the thymus of SOCS-1(-/-) mice was reduced markedly in size, and there was a progressive loss of maturing B lymphocytes in the bone marrow, spleen, and peripheral blood. Thus, SOCS-1 is required for in vivo regulation of multiple cell types and is indispensable for normal postnatal growth and survival.
We present the findings and clinical course of a Caucasian woman (now age 23 1/2) who has been treated since early childhood for a previously undescribed syndrome of painful osteocartilaginous metaplasia of long bone metaphyses and painful distal phalangeal osteolysis and soft tissue swelling. Despite extensive evaluations and attempts at effective treatment, the cause and pathogenesis of her unique musculoskeletal disorder remain elusive.