Naegeli-Franceschetti-Jadassohn Syndrome (NFJS)

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MedlinePlus Genetics: ⁴² 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, also known as naegeli syndrome, is related to ectodermal dysplasia and dermatopathia pigmentosa reticularis. An important gene associated with Naegeli-Franceschetti-Jadassohn Syndrome is KRT14 (Keratin 14), and among its related pathways/superpathways are Nervous system development and Keratinization. Affiliated tissues include skin, and related phenotypes are reticulated skin pigmentation and adermatoglyphia

GARD: ¹⁹ Naegeli syndrome belongs to a group of disorders known as ectodermal dysplasias. This condition is characterized by absent fingerprints, thickening of the palms and soles (palmoplantar keratoderma), decreased sweating (hypohidrosis), heat intolerance, patches of darker (hyperpigmented) skin, brittle nails, abnormally colored teeth, and early tooth loss. Naegeli syndrome is caused by genetic changes in the KRT14 gene and inherited in an autosomal dominant manner.

UniProtKB/Swiss-Prot: ⁷³ A rare autosomal dominant form of ectodermal dysplasia. The cardinal features are absence of dermatoglyphics (fingerprints), reticular cutaneous hyperpigmentation (starting at about the age of 2 years without a preceding inflammatory stage), palmoplantar keratoderma, hypohidrosis with diminished sweat gland function and discomfort provoked by heat, nail dystrophy, and tooth enamel defects.

Disease Ontology: ¹¹ A ectodermal dysplasia characterized by reticulate hyperpigmentation that made fade with age, palmoplantar keratoderma, absence of dermatoglyphics, abnormal sweat function and dental anomalies that has material basis in heterozygous mutation in KRT14 on chromosome 17q21.2.

Orphanet: ⁵⁸ Naegeli-Franceschetti-Jadassohn (NFJ) syndrome is a rare ectodermal dysplasia that affects the skin, sweat glands, nails, and teeth.

Wikipedia: ⁷⁵ Naegeli-Franceschetti-Jadassohn syndrome (NFJS), also known as chromatophore nevus of Naegeli and... more...

Clinical features from OMIM®:

Search Clinical Trials, NIH Clinical Center for Naegeli-Franceschetti-Jadassohn Syndrome