OBJECTIVE: To explore the clinical phenotype and genetic basis for a Chinese pedigree affected with familial progressive hyperpigmentation and hypopigmentation (FPHH). METHODS: Clinical data and family history for a child with FPHH were collected. Peripheral blood samples were collected from the child, his parents and two sisters. Following the extraction of DNA, high-throughput sequencing was carried out to screen for genetic variant associated with the disease. Candidate variant was verified by Sanger sequencing of his family members. RESULTS: The main clinical features of the proband have included progressive hyperpigmentation and hypopigmentation. High-throughput sequencing revealed that he has harbored a heterozygous c.105T>A (p.Asn35Lys) variant of the KITLG gene, which was unreported previously. Sanger sequencing confirmed that the variant has co-segregated with the disease phenotype in his pedigree. CONCLUSION For infants with progressive skin pigmentation and hypopigmentation spots, FPHH should be suspected. The heterozygous c.105T>A (p.Asn35Lys) variant of the KITLG gene probably underlay the FPHH in this pedigree.
Male ; Humans ; Pedigree ; Hypopigmentation/genetics* ; Phenotype ; Hyperpigmentation/genetics* ; China

OBJECTIVETo identify keratin 5 (K5) and keratin 14 (K14) gene mutations in a family affected with epidermolysis bullosa simplex with mottled pigmentation.

METHODSGenomic DNA was extracted from peripheral blood samples obtained from eleven patients from the family and controls. All the exons of K5 and K14 genes were amplified using polymerase chain reaction (PCR) and directly sequenced.

RESULTSBy DNA sequence analysis, a missense mutation in K5 gene (c.237C>T) was detected. The same mutation was not found in non-affected members from the family and normal controls.

CONCLUSIONMutation in K5 gene (c.237C>T) may be responsible for the development of disease in this family.

Base Sequence ; DNA Mutational Analysis ; Epidermolysis Bullosa Simplex ; genetics ; pathology ; Exons ; Female ; Humans ; Hyperpigmentation ; genetics ; pathology ; Keratin-14 ; genetics ; Keratin-5 ; genetics ; Male ; Mutation ; Pedigree ; Sequence Analysis, DNA

BACKGROUNDAcne inversa (AI), also called hidradenitis suppurativa, is a chronic, inflammatory, recurrent skin disease of the hair follicle. Familial AI shows autosomal-dominant inheritance caused by mutations in the γ-secretase genes. This study was aimed to identify the specific mutations in the γ-secretase genes in two Chinese families with AI.

METHODSIn this study, two Chinese families with AI were investigated. All the affected individuals in the two families mainly manifested with multiple comedones, pitted scars, and a few inflammatory nodules on their face, neck, trunk, axilla, buttocks, upper arms, and thighs. Reticulate pigmentation in the flexures areas resembled Dowling-Degos disease clinically and pathologically. In addition, one of the affected individuals developed anal canal squamous cell carcinoma. Molecular mutation analysis of γ-secretase genes including PSENEN, PSEN1, and NCSTN was performed by polymerase chain reaction and direct DNA sequencing.

RESULTSTwo novel mutations of PSENEN gene were identified, including a heterozygous missense mutation c.194T>G (p.L65R) and a splice site mutation c.167-2A>G.

CONCLUSIONSThe identification of the two mutations could expand the spectrum of mutations in the γ-secretase genes underlying AI and provide valuable information for further study of genotype-phenotype correlations.

Amyloid Precursor Protein Secretases ; genetics ; DNA Mutational Analysis ; Female ; Hidradenitis Suppurativa ; diagnosis ; genetics ; Humans ; Hyperpigmentation ; diagnosis ; Male ; Membrane Proteins ; genetics ; Middle Aged ; Mutation ; Pedigree ; Skin Abnormalities ; diagnosis ; Skin Diseases, Genetic ; diagnosis ; Skin Diseases, Papulosquamous ; diagnosis

Carney complex is a multiple neoplasia syndrome, inherited in an autosomal dominant manner, that is characterized by lentigines, cardiac myxoma, and numerous endocrine and other tumors, including primary pigmented nodular adrenocortical disease. Here, we describe a typical case of Carney complex in a 27- year-old female who exhibited spotty skin pigmentation on the lips, oral mucosa, fingers, and toes and several manifestations of Cushing's syndrome due to primary pigmented nodular adrenocortical disease. She also had pituitary adenoma, breast tumor and thyroid nodule. Only a few cases of this disorder have been reported in the Korean literature. All of them, however, had only two components of Carney complex: composed of skin pigmentation and primary pigmented nodular adrenocortical disease. Therefore, the present case seems to be the first true case of Carney complex reported in Korea.
Adult ; Cushing Syndrome/*diagnosis ; Female ; Human ; Hyperpigmentation/diagnosis ; Magnetic Resonance Imaging ; Multiple Endocrine Neoplasia/diagnosis ; Myxoma/*diagnosis/genetics ; Neoplasms, Multiple Primary/*diagnosis ; Pituitary Neoplasms/*diagnosis ; Skin Neoplasms/*diagnosis/genetics ; Syndrome