DPR
MCID: NGL003
MIFTS: 12

Naegeli-Franceschetti-Jadassohn Syndrome/dermatopathia Pigmentosa Reticularis (DPR)

Categories: Skin diseases

Aliases & Classifications for Naegeli-Franceschetti-Jadassohn Syndrome/dermatopathia Pigmentosa...

MalaCards integrated aliases for Naegeli-Franceschetti-Jadassohn Syndrome/dermatopathia Pigmentosa Reticularis:

Name: Naegeli-Franceschetti-Jadassohn Syndrome/dermatopathia Pigmentosa Reticularis 25
Naegeli Syndrome 25 71
Naegeli-Franceschetti-Jadassohn Syndrome 25
Franceschetti-Jadassohn Syndrome 25
Nfj Syndrome 25
Nfjs/dpr 25
Nfjs 25
Dpr 25

Classifications:



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UMLS 71 C0343111

Summaries for Naegeli-Franceschetti-Jadassohn Syndrome/dermatopathia Pigmentosa...

Genetics Home Reference : 25 Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis (NFJS/DPR) represents a rare type of ectodermal dysplasia, a group of about 150 conditions characterized by abnormal development of ectodermal tissues including the skin, hair, nails, teeth, and sweat glands. NFJS and DPR were originally described as separate conditions; however, because they have similar features and are caused by mutations in the same gene, they are now often considered forms of the same disorder. Among the most common signs of NFJS/DPR is a net-like pattern of dark brown or gray skin coloring, known as reticulate hyperpigmentation. This darker pigmentation is seen most often on the neck, chest, and abdomen, although it can also occur in and around the eyes and mouth. Reticulate hyperpigmentation appears in infancy or early childhood. It may fade with age or persist throughout life. NFJS/DPR also affects the skin on the hands and feet. The skin on the palms of the hands and soles of the feet often becomes thick, hard, and callused, a condition known as palmoplantar keratoderma. Some affected individuals also have blistering on their palms and soles. Their fingernails and toenails may be malformed, brittle, and either thicker or thinner than usual. Most affected individuals are missing the patterned ridges on the skin of the hands and feet, called dermatoglyphs, that are the basis for each person's unique fingerprints. Additional features of NFJS/DPR can include a reduced ability to sweat (hypohidrosis) or excess sweating (hyperhidrosis) and dental abnormalities. Some affected individuals also have hair loss (alopecia) on the scalp, eyebrows, and underarms. The alopecia is described as noncicatricial because it does not leave scars (cicatrices).

MalaCards based summary : Naegeli-Franceschetti-Jadassohn Syndrome/dermatopathia Pigmentosa Reticularis, also known as naegeli syndrome, is related to naegeli-franceschetti-jadassohn syndrome and adermatoglyphia. Affiliated tissues include eye and skin.

Related Diseases for Naegeli-Franceschetti-Jadassohn Syndrome/dermatopathia Pigmentosa...

Graphical network of the top 20 diseases related to Naegeli-Franceschetti-Jadassohn Syndrome/dermatopathia Pigmentosa Reticularis:



Diseases related to Naegeli-Franceschetti-Jadassohn Syndrome/dermatopathia Pigmentosa Reticularis

Symptoms & Phenotypes for Naegeli-Franceschetti-Jadassohn Syndrome/dermatopathia Pigmentosa...

Drugs & Therapeutics for Naegeli-Franceschetti-Jadassohn Syndrome/dermatopathia Pigmentosa...

Search Clinical Trials , NIH Clinical Center for Naegeli-Franceschetti-Jadassohn Syndrome/dermatopathia Pigmentosa Reticularis

Genetic Tests for Naegeli-Franceschetti-Jadassohn Syndrome/dermatopathia Pigmentosa...

Anatomical Context for Naegeli-Franceschetti-Jadassohn Syndrome/dermatopathia Pigmentosa...

MalaCards organs/tissues related to Naegeli-Franceschetti-Jadassohn Syndrome/dermatopathia Pigmentosa Reticularis:

40
Eye, Skin

Publications for Naegeli-Franceschetti-Jadassohn Syndrome/dermatopathia Pigmentosa...

Articles related to Naegeli-Franceschetti-Jadassohn Syndrome/dermatopathia Pigmentosa Reticularis:

# Title Authors PMID Year
1
Prenatal and postnatal growth retardation, microcephaly, developmental delay, and pigmentation abnormalities: Naegeli syndrome, dyskeratosis congenita, poikiloderma Clericuzio type, or separate entity? 61
21252004 2011
2
Genodermatosis with reticulate, patchy and mottled pigmentation of the neck--a clue to rare dermatologic disorders. 61
9812038 1998

Variations for Naegeli-Franceschetti-Jadassohn Syndrome/dermatopathia Pigmentosa...

Expression for Naegeli-Franceschetti-Jadassohn Syndrome/dermatopathia Pigmentosa...

Search GEO for disease gene expression data for Naegeli-Franceschetti-Jadassohn Syndrome/dermatopathia Pigmentosa Reticularis.

Pathways for Naegeli-Franceschetti-Jadassohn Syndrome/dermatopathia Pigmentosa...

GO Terms for Naegeli-Franceschetti-Jadassohn Syndrome/dermatopathia Pigmentosa...

Sources for Naegeli-Franceschetti-Jadassohn Syndrome/dermatopathia Pigmentosa...

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