Instances of involvement in multiple generations were reviewed by Hrdlicka (1935). Inheritance - Autosomal dominant Misc - Age dependent - More frequent in males Ears - External auditory canal exostoses ▲ Close
Contents 1 Signs and symptoms 2 Cause 3 Prevention 4 Treatment 5 See also 6 References 7 External links Signs and symptoms [ edit ] In general one ear will be somewhat worse than the other due to the prevailing wind direction of the area surfed [2] or the side that most often strikes the wave first. Decreased hearing or hearing loss , temporary or ongoing Increased prevalence of ear infections , causing ear pain Difficulty evacuating debris or water from the ear causing a plugging sensation Normal ear canal Normal ear canal Exostosis in ear canal Exostosis in ear canal Cause [ edit ] The majority of patients present in their mid-30s to late 40s. ... 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Benign concentric annular macular dystrophy (BCAMD) is a progressive autosomal dominant macular dystrophy characterized by parafoveal hypopigmentation followed by a retinitis pigmentosa-like phenotype (nyctalopia and peripheral vision loss) with a bull’s eye configuration.
However, the mutation was not predicted to have a major effect on the protein, and the authors stated that study of additional patients was necessary to establish the causality of the mutation. INHERITANCE - Autosomal dominant HEAD & NECK Eyes - Benign concentric annular macular dystrophy - Depigmented ring around an intact central area - Dyschromatopsia - Foveal hyperpigmentation - Normal findings on electrophysiologic testing ▲ Close
Familial some cases of syringoma exhibit a familial pattern in an autosomal dominant pattern of inheritance. Chromosome 16q22 has been shown to be involved in the genetic links of syringoma. ... Brooke-Spiegler syndrome is a rare autosomal dominant syndrome with cutaneous manifestations including syringomas and trichoepitheliomas . Nicolau-Balus syndrome is a rare autosomal dominant disorder consisting of atrophoderma vermiculata and syringomas. ... Familial patterns presenting in an autosomal dominant pattern suggest a genetic link that can result in varying genetic aberrations in lesions, specifically chromosome 16q22.
Poblete Gutierrez et al. (2002) reported a 4-generation German family in which 4 individuals had skin appendage tumors inherited in an autosomal dominant pattern. The eldest affected member, deceased at the time of the report, had turban tumor-like cylindromas of the scalp and nasolabial region confirmed by histologic examination. ... Reevaluation of the clinical and pathologic data led to a change of the working diagnosis to autosomal dominant cylindromatosis. Subsequent linkage analysis showed a lod score of 3.02 with marker D16S308 at chromosome 16q12-q13. ... History Schmidt-Baumler (1931) raised the question of X-linked dominant inheritance. The pedigree of Blandy et al. (1961) showed an affected male who had all daughters affected and all sons unaffected. ... Hart (1973) suggested that the lesions of hereditary multiple benign cystic epithelioma could be discerned in ancient Parthian coins. INHERITANCE - Autosomal dominant SKIN, NAILS, & HAIR Skin - Cylindromas, multiple (face, trunk and extremities) - Cylindromas usually occur on the scalp may coalesce into large 'turban tumors' Skin Histology - Mosaic-like masses of epithelial cells surrounded by thin layers of PAS-positive stroma - Cells appear to be of glandular origin NEOPLASIA - Cylindromas may show malignant transformation MISCELLANEOUS - Onset in early adulthood - Allelic disorder to multiple familial trichoepithelioma 1 (MFT1, 601606 ) and Brooke-Spiegler syndrome (BSS, 605041 ) MOLECULAR BASIS - Caused by mutation in the CYLD gene ( 605018.0001 ) ▲ Close
Schweitzer et al. (1984) described the combination of conductive hearing loss due to middle ear ossicular anomalies, thickened bilateral 'lop' or 'cup' auricles (128600), and micrognathia. Inheritance - Autosomal dominant Ears - Thickened earlobes - Congenital conductive deafness - Curvature of long crus of incus - Absent stapes head ▲ Close
An extremely rare autosomal dominant developmental defect of the eye described in several members of one family that is characterized by the association of moderate intellectual disability with aniridia, lens dislocation, optic nerve hypoplasia and cataracts.
Hyperinsulinemic hypoglycemia due to INSR deficiency is a very rare autosomal dominant form of familial hyperinsulinism characterized clinically in the single reported family by postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio, and a variable age of onset.
The mutation was not found in any unaffected family members. INHERITANCE - Autosomal dominant NEUROLOGIC Central Nervous System - Loss of consciousness due to hypoglycemia - Seizures, hypoglycemic ENDOCRINE FEATURES - Hyperinsulinemic hypoglycemia LABORATORY ABNORMALITIES - Hypoglycemia, postprandial - Hyperinsulinemia, fasting - Elevated serum insulin-to-C-peptide ratio MISCELLANEOUS - Genetic heterogeneity (see HHF1 256450 ) MOLECULAR BASIS - Caused by mutation in the insulin receptor gene (INSR, 147670.0037 ) ▲ Close
Less than 30 cases have been described. Transmission is autosomal dominant and mutations in the PITX2 gene have been suggested as a potential cause of the condition.
Breast feeding is usually possible, though it is more likely to be hard to get the baby to latch comfortably in the first weeks after birth; extra help may be needed.
The frequency in sibs and parents of affected persons is said to be about 18%. INHERITANCE - Autosomal dominant HEAD & NECK Mouth - Bifid uvula ▲ Close
