research Novel Mutations in X-Linked Dominant Chondrodysplasia Punctata (CDPX2)
New mutations in the EBP gene cause CDPX2, affecting bones, skin, eyes, and hair, with females generally less affected than males.
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5 / 54 resultsresearch Targeted Overexpression of Parathyroid Hormone-Related Peptide in Chondrocytes Causes Chondrodysplasia and Delayed Endochondral Bone Formation
Overexpression of PTHrP in chondrocytes causes short-limbed dwarfism and delayed bone formation in mice.
research Early Skin Biopsy in Conradi‐Hünermann‐Happle Syndrome (X‐Linked Dominant Chondrodysplasia Punctata)
Conradi-Hünermann-Happle syndrome (CHHS) is a rare X-linked dominant disorder caused by variants in the EBP gene, affecting cholesterol biosynthesis. It is characterized by ichthyosis, skeletal dysplasia, and congenital cataracts, with scarring alopecia also possible. A case study of a newborn female with CHHS highlighted the importance of early skin biopsy, performed within 12 hours of birth, to identify unique histopathologic features such as dystrophic calcifications in keratotic follicular plugs. These features resolve spontaneously within weeks, making early biopsy crucial for diagnosis. Genetic testing confirmed the EBP gene variant, and the infant's skin normalized by six weeks. The study emphasizes the value of early biopsy alongside genetic testing for diagnosing rare genodermatoses like CHHS.
research Cartilage Oligomeric Matrix Protein Forms Part of the Connective Tissue of Normal Human Hair Follicles
A protein called COMP is part of the connective tissue in normal human hair follicles and may be important for hair health.
research Secondary Cicatricial and Other Permanent Alopecias
The document concludes that permanent hair loss conditions are complex, require early specific treatments, and "secondary permanent alopecias" might be a more accurate term than "secondary cicatricial alopecia."
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