OBJECTIVE: To explore the genetic basis for a Chinese pedigree affected with pachyonychia congenita (PC). METHODS: With informed consent obtained, peripheral blood samples were taken from the pedigree. Genomic DNA was extracted with a phenol/chloroform method. Based on the clinical manifestation of the patients, candidate genes for PC were selected. Potential mutation was screened by PCR and Sanger sequencing. Suspected mutation was verified in other family members by PCR-high resolution melting (HRM) analysis. Haplotype analysis using microsatellite markers was also carried out to determine the founder of the mutation. RESULTS: A heterozygous c.275A>G (Asn92Ser) mutation was discovered in exon 1 of the KRT17 gene in the proband. PCR-HRM analysis showed that all affected members were heterozygous carriers of the mutation. The same mutation was found in none of the unaffected members. Haplotype analysis and sequencing indicated the mother of the proband to be the founder. CONCLUSION The c.275A>G (Asn92Ser) mutation of the KRT17 gene probably underlies the disease in this pedigree. Above finding has facilitated genetic counseling and prenatal diagnosis for this pedigree.
Asian Continental Ancestry Group ; Humans ; Keratin-17 ; genetics ; Mutation ; Pachyonychia Congenita ; genetics ; Pedigree ; Polymerase Chain Reaction

Steatocystoma multiplex is an uncommon benign skin disease, which typically manifests as numerous intradermal cysts that can be scattered anywhere on the body. Although usually asymptomatic, it can be significantly disfiguring. One type of steatocystoma multiplex is known to be associated with the autosomal dominant inheritance of a mutation in the gene coding for keratin 17 (KRT17). In such cases, it is often concurrent with other developmental abnormalities of the ectoderm-derived tissues, such as the nails, hair, and teeth. To the best of our knowledge, few cases have been reported of steatocystoma multiplex of the oral and maxillofacial region. This report describes a case of steatocystoma multiplex of both sides of the neck and multiple dental anomalies, with a focus on its clinical, radiological, and histopathological characteristics, as well as the possibility that the patient exhibited the familial type of this condition.
Clinical Coding ; Hair ; Humans ; Keratin-17 ; Neck ; Skin Diseases ; Steatocystoma Multiplex ; Tooth ; Wills

No abstract available.
Exons* ; Point Mutation* ; Steatocystoma Multiplex*

Child, Preschool ; Dermoid Cyst ; diagnosis ; Eyebrows ; pathology ; Female ; Humans ; Steatocystoma Multiplex ; diagnosis

No abstract available.
Steatocystoma Multiplex

No abstract available.
Asian Continental Ancestry Group* ; Humans ; Keratin-17* ; Mutation, Missense* ; Steatocystoma Multiplex*

Steatocystoma multiplex (SM) is an uncommon cutaneous disorder characterised by multiple intradermal cysts distributed over the trunk and proximal extremities. This condition affects both genders and is often inherited as an autosomal dominant trait, although sporadic cases have been described. This report describes the mammographic and sonographic features of the cysts, which presented as breast lumps, for evaluation. The cysts appeared as numerous well-circumscribed, radiolucent nodules with thin radiodense rims on mammography. On sonography, the cysts could be hypoechoic, isoechoic or demonstrate mixed echoes containing debris-fluid levels, depending on the amount of clear oily liquid and keratinous material. SM can be diagnosed based on a clinical setting of multiple asymptomatic small intradermal nodules over the trunk and proximal extremities, positive family history and imaging findings.
Breast Diseases ; diagnosis ; Diagnosis, Differential ; Female ; Humans ; Mammography ; methods ; Middle Aged ; Steatocystoma Multiplex ; diagnosis ; Ultrasonography, Mammary ; methods

Steatocystoma multiplex is a clinical condition characterized by numerous dermal cysts that have their origin in the pilosebaceous duct, which appear and grow at puberty. The cystic nodules range from 3 mm to 3 cm in size, and they are soft and freely movable. Although there are numerous reports of different treatment methods, the long-term management of steatocystoma multiplex remains to be difficult. We, herein, report on a case of 23-year-old man with steatocystoma multiplex on the buttock. He was successfully treated with dot peeling of 100% trichloracetic acid after aspiration of the oily contents without any complications, such as atrophy, scarring and skin necrosis. We report the combination therapy of needle aspiration and trichloroacetic acid peeling as new therapeutic modality for multiple steatocystoma multiplex.
Atrophy ; Buttocks ; Cicatrix ; Humans ; Necrosis ; Needles ; Puberty ; Skin ; Steatocystoma Multiplex ; Trichloroacetic Acid ; Young Adult

Pachyonychia congenita (PC) is a rare autosomal-dominant ectodermal dysplasia, which is characterized by hypertrophic nail dystrophy, diffuse or focal symmetrical hyperkeratosis of the palms and soles, oral leukokeratosis, follicular keratosis on the extensor surfaces of the extremities, and other ectodermal defects. However, the variable degree of gene mutation may result in nail abnormalities alone. The nail changes presented in our patient are the only clinical manifestation. Hypertrophic nail dystrophy and yellowish discoloration, without involving any other organs, were shown in both mother and baby since birth. To the best of our knowledge, the case of PC affecting only the nails has never been reported in Korea before. Herein, we report monosymptomatic form of PC, which is notable for its rareness and unique pattern, distinct from previously reported cases.
Ectoderm ; Ectodermal Dysplasia ; Extremities ; Humans ; Keratosis ; Korea ; Leukoplakia, Oral ; Mothers ; Nails ; Nails, Malformed ; Pachyonychia Congenita ; Parturition

OBJECTIVETo investigate the keratin 17 gene (KRT17) mutation in a pedigree with pachyonychia congenita type 2 (PC-II).

METHODSDNA was extracted from the blood samples of the patients, unaffected members of the pedigree, and 100 unrelated healthy controls. PCR was performed to amplify the hot spots in KRT17 gene. PCR products were directly sequenced to detect mutation.

RESULTSA heterozygous 296T-->C mutation was found in all the affected members of this family, which resulted in the substitution of leucine by proline in codon 99 (L99P) in the 1A domain of the KRT17, but not in the healthy individuals from the family and the 100 unrelated controls.

CONCLUSIONThe mutation of KRT17 may play a major role in the pathogenesis of this pedigree with pachyonychia congenita type 2.

Adult ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; China ; ethnology ; Humans ; Keratin-17 ; genetics ; Male ; Molecular Sequence Data ; Mutation ; Pachyonychia Congenita ; ethnology ; genetics ; Sequence Analysis, DNA