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9 results
  1. ... of major clinical features including partial-to-complete alopecia, nail dystrophy, and palmoplantar hyperkeratosis. Sweating is preserved and there are usually no ...
  2. ... Hidrotic ectodermal dysplasia 2 AD Sparse hair or alopecia Normal sweating ability, palmoplantar hyperkeratosis Normal teeth Nail dystrophy Photophobia HOXC13 Ectodermal dysplasia ...
  3. ... associated with perioral cracking and cheilitis, hypotrichosis or alopecia, and a painful and ... Peeling skin disorders with skin fragility include acral ...
  4. ... childhood and usually decreasing after adolescence), poikiloderma, diffuse palmoplantar hyperkeratosis, and pseudosyndactyly. Mucosal manifestations are also common and ...
  5. ... name >PPK-deafness syndrome</other_name><other_name >Palmoplantar hyperkeratosis-deafness syndrome</other_name><other_name >Palmoplantar hyperkeratosis- ...
  6. ... TBD include epiphora, loss of dermatoglyphics, early graying, palmoplantar hyperkeratosis, eyelash loss, and hair loss from scalp [ Ward ...
  7. ... include ocular issues related to persistent severe ectropion, alopecia, palmoplantar keratoderma with painful fissures and digital contractures, chronic ...
  8. ... prematurely leaving a gently sloping distal region of hyperkeratosis and exposed distal finger tip Focal palmoplantar keratoderma usually presents during the first few years ...
  9. ... extremities seen in RTS) Sclerosis of digits Mild palmoplantar keratoderma Scalp hair, eyelashes, &/or eyebrows typically sparse ... nomenclature. 1. Genes are listed in alphabetic order. References Literature Cited Ajeawung NF, Nguyen TM, Lu L, ...