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15 results

  1. Incontinentia Pigmenti - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1472
    ... at birth and does not progress. The differential diagnosis of other manifestations of IP includes the following disorders: Naegeli syndrome (OMIM 161000 ), a rare autosomal dominant disorder affecting ...
  2. Dyskeratosis Congenita - StatPearls - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK507710
    ... Surgical interventions should be acted upon accordingly. Differential ... syndrome, may have similar reticulate hyperpigmentation. Fanconi anemia ...
  3. Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis 
    https://medlineplus.gov/...rome-dermatopathia-pigmentosa-reticularis
    Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis (NFJS/DPR) represents a rare type of ectodermal dysplasia, a group of about 150 ...
  4. KRT14 gene 
    https://medlineplus.gov/genetics/gene/krt14
    ... the KRT14 gene have been found to cause Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis (NFJS/DPR). This disorder is ... Bergman R, McGrath JA, Richard G, Sprecher E. Naegeli-Franceschetti-Jadassohn ... dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias ...
  5. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... classified as ectodermal dysplasias, including a condition called Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis that affects the skin, hair, ...
  6. Adermatoglyphia 
    https://medlineplus.gov/genetics/condition/adermatoglyphia
    ... classified as ectodermal dysplasias, including a condition called Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis that affects the skin, hair, ...
  7. xmlTopicIndex.xml 
    https://medlineplus.gov/download/TopicIndex.xml
    ... topic><topic ><url >https://medlineplus.gov/genetics/condition/naegeli-franceschetti-jadassohn-syndrome-dermatopathia-pigmentosa-reticularis</url><title >Naegeli-Franceschetti-Jadassohn ...
  8. Skin Conditions 
    https://medlineplus.gov/skinconditions.html
    ... your body. Learn about skin conditions, including causes, symptoms, and treatment. ... your skin. Some of them can cause uncomfortable symptoms, such as itching, burning, redness, and rashes. They ...
  9. Anhidrosis - StatPearls - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK555988
    ... ectodermal dysplasias, such as Rapp-Hodgkin syndrome and Naegeli-Franceschetti-Jadassohn syndrome, can lead to sweat gland abnormalities. [13] Though ... 30925967 ] 13. Papini M. Natural history of the Naegeli-Franceschetti-Jadassohn syndrome. J Am Acad Dermatol. 1994 Nov; 31 (5 ...
  10. Epidermolysis Bullosa Simplex - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1369
    ... KRT5 loss-of-function variants (OMIM 179850 ). KRT14 Naegeli-Franceschetti-Jadassohn syndrome (OMIM 161000 ) & dermatopathia pigmentosa reticularis (OMIM 125595 ) are ...
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