Cases reported "Hair Diseases"

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1/3. cartilage-hair hypoplasia syndrome: increased apoptosis of T lymphocytes is associated with altered expression of Fas (CD95), FasL (CD95L), IAP, Bax, and Bcl2.

    cartilage-hair hypoplasia (CHH) is a rare autosomal recessive short-limbed dwarfism associated with thin and sparse hair and cell mediated or combined immunodeficiency. However, the basis of immune deficiency in CHH is unclear. In this study, we investigated a role of apoptosis in immunodeficiency in a patient with CHH. An increased apoptosis of both CD4 and CD8 T cells, as determined by TUNEL assay, was observed in CHH compared to an age-matched healthy dwarf control. Increased apoptosis in CHH was associated with increased expression of Fas (CD95), CD95L, and Bax and decreased expression of Bcl-2 and inhibitor of apoptosis protein (IAP) compared to the control. These data suggest that lymphopenia and immunodeficiency in CHH may be, at least in part, due to increased apoptosis of T cells, possibly through the Fas/ FasL signaling pathway.
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keywords = apoptosis
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2/3. The ultrastructural characteristics of the hair bulb of segmented heterochromia in the scalp hair.

    Segmented heterochromia is a pigmentary disorder characterized by alternating dark and light segments on each hair shaft. Our aim was to observe the ultrastructure of hair shafts and bulbs to understand the pathogenesis of the disease. biopsy specimens including normal or diseased hair follicles were prepared for transmission electron microscopy. In dark segments, dense and ellipsoidal melanosomes were noted while small, round ones were found in the light segments. Two groups of melanosomes lined up on the matrix, one of which was composed of compact ellipsoidal melanosomes, and the other was composed of melanosomes with irregular sizes and shapes. melanocytes seemed to be under necrosis, apoptosis, or dark cell transformation. langerhans cells were found in the bulb. Two kinds of melanosomes were produced in the same hair bulb simultaneously. Degenerating melanocytes might produce deformed melanosomes. langerhans cells might be involved in the death of melanocytes. It is unknown how either group of melanosomes is adopted and transferred to the hair cortex producing the characteristic pattern of pigmentation.
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keywords = apoptosis
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3/3. Intrauterine epidermal necrosis: report of three cases.

    BACKGROUND: Extensive epidermal necrosis in newborn infants is an unusual event of heterogeneous cause. OBJECTIVE: The objective of this article is to describe what seems to be a previously unrecognized lethal disease. methods: The clinical and histopathologic features of three premature infants, two of them nonidentical twins, and the autopsy findings of one of them were analyzed. RESULTS: Intrauterine lethal epidermal necrosis with hair follicle calcification, except for the face, hands, feet, elbows, and knees, was present in all three patients. Some histopathologic features were suggestive of epidermal apoptosis. CONCLUSION: We propose that the clinicopathologic alterations in our patients represent a new condition that may be caused by massive epidermal apoptosis.
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ranking = 0.22222222222222
keywords = apoptosis
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