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Patients with this disorder tend to have a hair shaft defect (trichorrhexis invaginata), also known as "bamboo hair". The disrupted skin barrier function in affected individuals also presents a high susceptibility to infection and allergy , leading to the development of scaly, reddish skin similar to atopic dermatitis . [ 5 ]
Later, this was more appropriately renamed as trichorrhexis invaginata (bamboo hair) for a ball-and-socket–type hair-shaft deformity at the suggestion of Wilkinson et al. [12] [13] In 1974, Mevorah et al. established the clinical relationship between ichthyosis linearis circumflexa and Netherton syndrome, and an atopic diathesis was found to ...
This gene is found in skin cells known as keratinocytes and corneocytes. This helps frame the scalp, root, and strands of hair. [14] It helps the molecules bind to other proteins. [14] The cross-links help provide strength and structure to the cells' skin and hair cells. [14] Chromosomal location of Transglutaminase 3 is located on chromosome ...
Griscelli syndrome type 2 (also known as "partial albinism with immunodeficiency") is a rare autosomal recessive syndrome characterized by variable cutenous albinism, silver colored metallic looking hair, frequent bacterial or viral infections, neutropenia, and thrombocytopenia.
Tufted folliculitis presents with doll's hair-like bundling of follicular units, and is seen in a wide range of scarring conditions including chronic staphylococcal infection, chronic lupus erythematosus, lichen planopilaris, Graham-Little syndrome, folliculitis decalvans, acne keloidalis nuchae, immunobullous disorders, and dissecting cellulitis.
Occipital horn syndrome (sometimes called X-linked cutis laxa or Ehlers-Danlos type 9 [10]) is a mild form of Menkes syndrome that begins in early to middle childhood. It is characterized by calcium deposits in a bone at the base of the skull (occipital bone), coarse hair, and loose skin and joints. [11]
Trichorrhexis nodosa is a defect in the hair shaft characterized by thickening or weak points (nodes) that cause the hair to break off easily. [ 2 ] [ 3 ] : 636 This group of conditions contributes to the appearance of hair loss , lack of growth, and damaged-looking hair.
The skin may develop grey or brown patches which fade with time. Other symptoms can include hair loss, dental abnormalities, eye abnormalities that can lead to vision loss and lined or pitted fingernails and toenails. Associated problems can include delayed development, intellectual disability, seizures and other neurological problems.