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12 results
  1. Hidrotic Ectodermal Dysplasia 2 - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1200
    ... at a specific time. Hypotrichosis (partial or total alopecia). The scalp hair ... the Diagnosis The molecular diagnosis of HED2 is established in ...
  2. Clouston syndrome 
    https://medlineplus.gov/genetics/condition/clouston-syndrome
    ... of the hands and soles of the feet (palmoplantar hyperkeratosis); areas of the skin, especially over the joints, ...
  3. Hypohidrotic Ectodermal Dysplasia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1112
    ... Hidrotic ectodermal dysplasia 2 AD Sparse hair or alopecia Normal sweating ability, palmoplantar hyperkeratosis Normal teeth Nail dystrophy Photophobia HOXC13 Ectodermal dysplasia ...
  4. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... the eyes, skin, and mental development. Signs and symptoms include eye pain and ... hyperkeratosis). About half of individuals with tyrosinemia type II ...
  5. Dyskeratosis Congenita and Related Telomere Biology Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK22301
    ... pigmentation may not be present at time of diagnosis, but may develop or ... palmoplantar hyperkeratosis, eyelash loss, and hair loss from scalp [ Ward ...
  6. Kindler Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK349072
    ... childhood and usually decreasing after adolescence), poikiloderma, diffuse palmoplantar hyperkeratosis, and ... diagnosis of KS is established in ...
  7. Epidermolysis Bullosa Simplex - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1369
    ... associated with perioral cracking and cheilitis, hypotrichosis or alopecia, and a painful and ... Peeling skin disorders with skin fragility include acral ...
  8. Genetic Conditions: P 
    https://medlineplus.gov/genetics/condition-p
    ... see Dupuytren contracture Palmar fibromas, see Dupuytren contracture Palmoplantar hyperkeratosis-deafness syndrome, see Palmoplantar keratoderma with deafness Palmoplantar ...
  9. xmlTopicIndex.xml 
    https://medlineplus.gov/download/TopicIndex.xml
    ... name >PPK-deafness syndrome</other_name><other_name >Palmoplantar hyperkeratosis-deafness syndrome</other_name><other_name >Palmoplantar hyperkeratosis- ...
  10. Autosomal Recessive Congenital Ichthyosis - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1420
    ... include ocular issues related to persistent severe ectropion, alopecia, palmoplantar keratoderma with painful fissures and digital contractures, chronic ...
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