Naegeli syndrome


Naegeli syndrome is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Naegeli syndrome, or a subtype of Naegeli syndrome, affects less than 200,000 people in the US population.


* Reticular pigmentation * Keratoderma of palms * Keratoderma of soles * Hypohidrosis of palms * Hypohidrosis of soles * Disturbed temperature regulation * Reduced number of sweat glands * Yellow spots on teeth * Rapid involuntary eye movements * Crossed eyes * Optic atrophy * Mottled teeth


In the single family of British origin, 25 members are affected by NFJ syndrome, and 37 are unaffected (Sparrow, 1976). Markers located on chromosome arms 1q, 12q, 18q were excluded for links to the disease; this finding indicated that the gene for NFJ syndrome was not located in the epidermal differentiation complex, the type II keratin cluster, or the desmosomal cadherin cluster, respectively. In contrast, a highly significant linkage was detected with a number of markers located in the vicinity of the type I keratin gene cluster on band 17q21. With maximum 2-lod scores of 4.16 and 3.717 for the markers D17S1787 and D17S1886, respectively (Whittock, 2000). Hence, the genetic defect in this family is located between the microsatellite markers D17S798 and D17S957, which are separated by approximately 26.97 cM. However, the gene defect is still unknown. Other genes that encode differentiation-specific keratins such as the type I keratins K-15, K-19, and K-20; plakoglobin; and the MEOX1 gene have been excluded (Whittock, 2000). The lack of dermatoglyphics is likely due to a defective protein that is involved in epithelial development and/or epithelial-mesenchymal interactions perhaps less likely due to the structure of the molecule. A number of candidate genes of this type have been mapped to the region critical to NFJ syndrome; these include the granulin gene that encodes a protein involved in epithelium growth and differentiation (Bhandari, 1992); frizzled homolog 2, a molecule involved in epithelial cell-signaling pathways (Zhao, 1995); ADAM-11, a protein implicated in cell-cell and cell-matrix interactions (Emi, 1993), and GRB-7, a membrane-bound growth factor receptor of uncertain function (Margolis, 1992); and the MEOX1 gene (Froehlich, 1999). References


In cases of diffuse thickening of the skin, a thyroid profile with T 3 , T 4 , and TSH should be done. This should also identify hypothyroidism. A positive ANA test with a speckled pattern will help identify scleroderma, but a skin biopsy should also be done. An antisclerodermal antibody titer is also useful if available. Esophageal motility studies will be helpful in early diagnosis. A skin biopsy will help identify many of the other conditions mentioned above. Urine for porphyrins will help identify porphyria.


The 'prognosis' of Naegeli syndrome usually refers to the likely outcome of Naegeli syndrome. The prognosis of Naegeli syndrome may include the duration of Naegeli syndrome, chances of complications of Naegeli syndrome, probable outcomes, prospects for recovery, recovery period for Naegeli syndrome, survival rates, death rates, and other outcome possibilities in the overall prognosis of Naegeli syndrome. Naturally, such forecast issues are by their nature unpredictable


* Treatment depends on etiology, although identifying the correct diagnosis is usually the most difficult aspect of the disease * Treating the appropriate condition if amenable to therapy will relieve the night sweats * Antipyretics (e.g., ibuprofen, acetaminophen) * Cessation of substance abuse * Appropriate antimicrobials if infectious cause * Cessation or decreased dose of causative medication(s), if possible