Peutz-Jeghers syndrome is a familial syndrome consisting of mucocutaneous pigmentation and gastrointestinal polyposis and appears to be inherited as a single pleiotropic autosomal dominant gene with variable and incomplete penetrance. Cases of hamartomatous polyps of the Peutz-Jeghers type without Peutz-Jeghers syndrome have only rarely been reported. Moreover, only one case of a Peutz-Jeghers polyp at the appendix has been reported; it was resected by appendectomy. We report here on a case of a 45 year old man who had a hamartomatous polyp of the Peutz-Jeghers type arising from the appendix. The polyp was successfully removed by endoscopic polypectomy. To our knowledge, this is the first case of a hamartomatous polyp of the Peutz-Jeghers type that originated from the appendix and that was resected endoscopically.
Appendectomy ; Appendix ; Genes, Dominant ; Penetrance ; Peutz-Jeghers Syndrome ; Pigmentation ; Polyps

Ectodermal dysplasia tends to fall into two groups, the hidrotic and anhidrotic fo rms. Each type has a seperate geneologic origin and distinct clinical manifestation. The hidrotic form usually results from the action of an autosomal dominant gene, whereas the anhidrotic form appears to be deterrnined by the action of a sex linked recessive gene. In the hidrotic form the main clinical manifestations are dystrophic nails, defects of hair shaft and hyperkeratosis of the palms and soles. Recently one case with dystrophic nails, defects of hair and eyebrow and normaI sweating function without family history has been seen by us.
Ectoderm* ; Ectodermal Dysplasia ; Eyebrows ; Genes, Dominant ; Genes, Recessive ; Hair ; Humans ; Sweat ; Sweating

Centronuclear myopathies are clinically and genetically heterogenous diseases with common histological findings, namely, centrally located nuclei in muscle fibers with a predominance and hypotrophy of type 1 fibers. We describe two cases from one family with autosomal dominant centronuclear myopathy with unusual clinical features that had initially suggested distal myopathy. Clinically, the patients presented with muscle weakness and atrophy localized mainly to the posterior compartment of the distal lower extremities. Magnetic resonance imaging revealed predominant atrophy and fatty changes of bilateral gastrocnemius and soleus muscles. This report demonstrates the expanding clinical heterogeneity of autosomal dominant centronuclear myopathy.
Adolescent ; Female ; *Genes, Dominant ; Humans ; Middle Aged ; Muscle, Skeletal/pathology ; Myopathies, Structural, Congenital/*genetics/*pathology

Reticulate acropigmentation of Kitamura, described first by Kitamura and Akam atsu in 1943, is a pigmentary disorder that may be determined by an autasomal dominant gene. Skin lesions are characterized clinically by depressed brownisL pigmented spots, in a reticulated pattern, on the extensor surface of the acral parts of the extremities. Most reported cases are confined to Japanese. We report herein a case of reticulate acropigmentation of Kitarnura in a 28- year-old woman, with a depressed brownish pigmented spots, in a reticulate pattern, on the dorsum of hands and left foot. The authors make the diagnosis of this case a reticulate acropigmentation of Kitamura for the clinical symptoms and histopathologic findings.
Asian Continental Ancestry Group ; Diagnosis ; Extremities ; Female ; Foot ; Genes, Dominant ; Hand ; Humans ; Skin

Dyschromatosis symmetrica hereditaria is one of the pigmentary disorders of the skin which has been reported mainly from Japan. It appeara to be determined by an autosomal dominant gene. Clinical characteristics of the disease are reticulate or mottled pigmentation with areas of depigmentation on the backs of the hands and feet and sometimes on the arms and legs without any subjective symptoms which develop during infancy or early childhood. We described five individual members with dyschromatosis symmetrica hereditaria in two families, one family had three individuals in three generations and the other family had two individuals in two generations. Literatures were briefly reviewed.
Arm ; Family Characteristics ; Foot ; Genes, Dominant ; Hand ; Humans ; Japan ; Leg ; Pigmentation ; Skin

Multiple neurofibromatosis is known to be a genetic disease with the autosomal dominant inheritance pattern. In clinical practice, however, we can hardly ever find a case in which the autosomal dominant inheritance is demonstrable, because sporadic mutation is believed to cause about 50 % of the observed rnultiple neurofibromatosis cases, and because such patients show reduced fertility. The authors observed a family case in which the typical autosomal dominant inheritance could be demonstrated. Among 17 consanguinities of the 3 generations studied, 12 had developed multiple neurofibrornatosis. The presumed reason for the high incidence of the disease in the family studied is 2 fold: 1) The autosomal dominant gene responsible for the disease is highly penetrable. 2) The mutant gene responsible for the disease, for some unexplained reason, was transmitted from patient No. 1 to a.ll of her offsprings, instead of to only half of her offsprings, as would be expected. Multiple neurofibromatosis is known to be a genetic disease with the autosomal dominant inheritance pattern. In clinical practice, however, we can hardly ever find a case in which the autosomal dominant inheritance is demonstrable, because sporadic mutation is believed to cause about 50 % of the observed rnultiple neurofibromatosis cases, and because such patients show reduced fertility. The authors observed a family case in which the typical autosomal dominant inheritance could be demonstrated. Among 17 consanguinities of the 3 generations studied, 12 had developed multiple neurofibrornatosis. The presumed reason for the high incidence of the disease in the family studied is 2 fold: 1) The autosomal dominant gene responsible for the disease is highly penetrable. 2) The mutant gene responsible for the disease, for some unexplained reason, was transmitted from patient No. 1 to a.ll of her offsprings, instead of to only half of her offsprings, as would be expected. Multiple neurofibromatosis is known to be a genetic disease with the autosomal dominant inheritance pattern. In clinical practice, however, we can hardly ever find a case in which the autosomal dominant inheritance is demonstrable, because sporadic mutation is believed to cause about 50 % of the observed rnultiple neurofibromatosis cases, and because such patients show reduced fertility. The authors observed a family case in which the typical autosomal dominant inheritance could be demonstrated. Among 17 consanguinities of the 3 generations studied, 12 had developed multiple neurofibrornatosis. The presumed reason for the high incidence of the disease in the family studied is 2 fold: 1) The autosomal dominant gene responsible for the disease is highly penetrable. 2) The mutant gene responsible for the disease, for some unexplained reason, was transmitted from patient No. 1 to a.ll of her offsprings, instead of to only half of her offsprings, as would be expected.
Consanguinity ; Family Characteristics ; Fertility ; Genes, Dominant ; Humans ; Incidence ; Inheritance Patterns ; Neurofibromatoses* ; Neurofibromatosis 1 ; Wills

Congenital hypertrophic pyloric stenosis is the most common intra-abdominal disease required surgery during the first few months of life. The expression of pyloric stenosis is dependent upon the genetic influence of ancestors affected with the disease, as well as unknown environmental influences in the postnatal period. Pyloric stenosis has been reported in multiple sibs in a family, which suggests the genetic influence on the expression of this disease. Until now, the genetic influence is thought a sex-modified polygenic or multifactorial background which facilitates the expression of a common dominant gene. We experienced a case of congenital hypertrophic pyloric stenosis in a two siblings. The siblings suffered projectile vomiting for 2~4 days at 16 days old of age and 15 days old of age. After we confirmed the diagnosis by upper gastrointestinal series and abdominal sonogram, the Fredet-Ramstedt pyloromyotomy was done successfully. This case suggests the genetic influence on the expression of this disease.
Diagnosis ; Genes, Dominant ; Humans ; Pyloric Stenosis ; Pyloric Stenosis, Hypertrophic* ; Siblings* ; Vomiting

Darier's diseaae is relatively rare dyskeratotic and inheritable dermatoses of an. autosomal irregular dominant gene. The authors observed one case of typical Dariers disease with the family hietory of three generatian of autoaomal daminant trait. 22 year-oid patient we observed has had the generalized pruritus and dark dirty and warty patehes distribnted almost on the whole skin surface especially on trunk, back and face for about 10 years. Histopathologically, the lesion showed lacunae, corps ronds and grains which are compatible with typical Dariers disease.
Edible Grain ; Darier Disease* ; Genes, Dominant ; Humans ; Pruritus ; Skin ; Skin Diseases

Congenital cataract is a highly heterogeneous disorder at both the genetic and the clinical-phenotypic levels. A unique cataract was observed in a 4-generation Chinese family, which was characterized by autosomal dominant inheritance and late-onset. Mutations in the 13 known genes (CRYAA, CRYAB, CRYBB1, CRYBB2, CRYGC, CRYBA1/A3, CRYGD, Connexin50, Connexin46, intrinsic membrane protein LIM2, cytoskeletal protein BFSP2, the major intrinsic protein-MIP and the heat shock factor HSF4) have previously been demonstrated to be the frequent reason for isolated congenital cataracts, but the exact molecular basis and underlying mechanisms of congenital cataract still remain unclear. This study was designed to find whether these 13 genes developed any mutation in the family members and to identify the disease-causing gene. Polymerase chain reaction (PCR) and direct DNA sequence analysis were carried out to detect the 13 genes. The results showed that no mutation causing amino acid alternations was found in these potential candidate genes among all patients in the family, and only several single-nucleotide polymorphisms (SNPs) were identified. A transitional mutation in the fourth intron of CRYBB2 and some silent mutations in the first exon of BFSP2 and CRYGD were found in the cataract family, but further study showed that these mutations could also be found in normal controls. It was concluded that some unidentified genes may underlie the occurrence of late-onset cataract in this family. A genome-wide screening will be carried out in the next study.
Adult ; Cataract ; congenital ; genetics ; China ; DNA Mutational Analysis ; Female ; Genes, Dominant ; Humans ; Male ; Middle Aged ; Pedigree

Congenital ectodermal dysplasia are a group of familial disorders that affect tissues and organs of ectodermal origin to varying degrees. It devided hidrotic type and anhidrotic type by geneologic origin and distinct clinical manifestationa. The hidrotic type usually trait by autosomal dominant gene and manifested dystrofic nails, defect of hair and eyebrow and palmoplantar hyperkeratosis. This patient is 16 year oId male. He had been dystrophic nails, alopecia since at birth, thereafter palmoplantar hyperkeratosis, clubbing fingers noted. C.R.C. Urinalysis, stool examination, chest x-ray were within normal limit. Biopsy specimen from palm revealed hyperkeratosis, hypergranulosis, acanthosis and, mild inflamrnatory cell infiltrate on upper dermis. Biopsy speeimen from the scalp revealed norrriaI findings except slight hypoplasia of ebaceaus gland.
Alopecia ; Biopsy ; Dermis ; Ectoderm ; Ectodermal Dysplasia* ; Eyebrows ; Fingers ; Genes, Dominant ; Hair ; Humans ; Male ; Parturition ; Scalp ; Thorax ; Urinalysis