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Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis (NFJS/DPR) is a rare ectodermal dysplasia. Ectodermal dysplasias are a collection of approximately 150 disorders characterized by irregularities in the development of tissues derived from the ectoderm, such as the skin, hair, nails, teeth, and sweat glands. Initially considered separate disorders, NFJS and DPR share similar characteristics and are both caused by mutations in the same gene, leading them to be now frequently recognized as variations of the same condition.
A defining feature of NFJS/DPR is reticulate hyperpigmentation, a net-like pattern of dark brown or gray pigmentation on the skin. This pigmentation is most commonly observed on the neck, chest, and abdomen, but can also be present around the eyes and mouth. Reticulate hyperpigmentation typically emerges during infancy or early childhood and may either diminish over time or remain throughout the individual's life.
NFJS/DPR also impacts the skin of the hands and feet. Palmoplantar keratoderma, characterized by thickened, hardened, and calloused skin on the palms and soles, is a frequent finding. Blistering on the palms and soles may also occur in some individuals. The fingernails and toenails may be abnormally formed, fragile, and either thicker or thinner than normal. Notably, most individuals with NFJS/DPR lack dermatoglyphs, the patterned ridges on the skin of the hands and feet that form the basis of unique fingerprints.
Other possible features of NFJS/DPR include abnormal sweating patterns, presenting as either reduced sweating (hypohidrosis) or excessive sweating (hyperhidrosis), and dental anomalies. Some affected individuals may also experience hair loss (alopecia) affecting the scalp, eyebrows, and underarms. The alopecia is noncicatricial, meaning it does not result in scarring.
NFJS/DPR follows an autosomal dominant inheritance pattern. This means that inheriting only one copy of the mutated gene in each cell is enough to cause the disorder.
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