No abstract available.
Nails, Malformed* ; Pachyonychia Congenita*

No abstract available.
Nails, Malformed* ; Pachyonychia Congenita*

Pachyonychia congenita is an uncommon genodermatosis of abnormal keratinization characterized by dystrophic nails and hyperkeratosis of the palms, soles, oral mucosa, and hair follicles. Mutations in keratin 6, 16, and 17 have been identified in a number of families. The 4 major features of the syndrome are onychogryphosis, palmoplantar keratoderma, follicular hyperkeratosis, and oral leukokeratosis. Treatment is only palliative, however, with attempts directed at improving symptoms that cause significant disability. We report a case of pachyonychia congenita in a 5-day-newborn with characteristic changes of nail, palms, soles, and oral mucosa.
Hair Follicle ; Humans ; Keratin-6 ; Keratoderma, Palmoplantar ; Leukoplakia, Oral ; Mouth Mucosa ; Nails, Malformed* ; Pachyonychia Congenita*

We report herein two cases of pachyonychia congenita in 19-month-old and 7-year-old girls. In addition to severely deformed nails, both had white plaques on the tongue and keratotic papules on the elbows and knees. In the 19-month-old girl, her father showed deformity of the nails and severe hyperkeratosis of the palms and soles, The family history was normal in other case.
Child ; Congenital Abnormalities ; Elbow ; Fathers ; Female ; Humans ; Infant ; Knee ; Nails, Malformed* ; Pachyonychia Congenita* ; Tongue

Pachyonychia congenita (PC) is characterized by hypertrophic nail dystrophy, focal palmoplantar keratoderma and blistering, oral leukokeratosis, cyst formation, palmoplantar hyperhydrosis, and follicular keratoses on the trunk and extremities. PC is diagnosed by clinical findings and molecular genetic studies. A 26-year-old man presented with hypertrophic nail dystrophy and subungual debris of all 20 nails, hyperkeratotic plaques on the heels of both soles, and oral leukokeratosis. He had no family history of similar clinical findings. The patient's clinical presentation and history were consistent with PC. Herein we report on a rare case of pachyonychia congenita with a review of literature.
Adult ; Blister ; Extremities ; Heel ; Humans ; Keratoderma, Palmoplantar ; Keratosis ; Leukoplakia, Oral ; Molecular Biology ; Nails ; Pachyonychia Congenita

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

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

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

OBJECTIVETo investigate the gene mutation in a Chinese pedigree and one sporadic case with pachyonychia congenita type I(PC-1), as well as to explore the relationship between the genotype and phenotype.

METHODSThe whole coding region of the KRT16 and KRT6A genes were amplified by long-range polymerase chain reaction (PCR). Six patients with PC-1 were studied, five of them were from a pedigree and the other one was sporadic. One unaffected member in the pedigree and 100 unrelated healthy individuals were also studied in order to exclude polymorphism. PCR products were directly sequenced to detect the mutation.

RESULTSNo mutations in the KRT16 gene were observed. All patients harbored a mutation in the KRT6A gene. All five patients in the pedigree had a mutation at codon 465 (TAC to CAC) which substitutes tyrosine (Y) by histidine (H). In the sporadic patient, codon 171 (AAC) was mutated to GAC, which changes the asparagines (N) to aspartic acid (D). No such mutations were found in the unaffected member of the pedigree and the 100 unrelated controls. The mutation of Y465H is located at the end of 2B and N171D at the beginning of 1A domain of KRT6A, both are hotspots for pathogenic keratin mutations.

CONCLUSIONThe mutations Y465H and N171D of the KRT16A gene were detected in the pedigree and the sporadic case respectively. The Y465H mutation was a novel mutation, and the N171D mutation was reported recently.

Asian Continental Ancestry Group ; genetics ; Base Sequence ; Female ; Humans ; Keratin-6 ; genetics ; Male ; Molecular Sequence Data ; Mutation ; Pachyonychia Congenita ; genetics ; Pedigree

A case of pachyonychia congcnita occurring in a 8 year-old boy is described. A few weeks after delivery, his mother noticed thickening of all the finger and toe nails of her baby. Family history was denied. In addition to characteristic features of pachyonychia congenita of all the nails, follicular keratotic papules were noted on the knees, elbows, buttocks and legs, and also tender thick calluses, on the soles with palnioplantar hyperhidrosis. There were three cornu cutaneurn on the popliteal and left antecubital fossae. Other associated fea.tures include a painful tense bulla at the left fourth finger, irnpetiginous patches on the anterior thighs, hoarseness and leukokeratosis linguae, sparseness of the scalp hairs, and granulosis rubra nasi accompanied by facial hyperhidrosis.
Bony Callus ; Buttocks ; Child ; Elbow ; Fingers ; Hair ; Hoarseness ; Humans ; Hyperhidrosis ; Knee ; Leg ; Leukoplakia ; Male ; Mothers ; Nails, Malformed* ; Pachyonychia Congenita* ; Scalp ; Thigh ; Toes ; Transcutaneous Electric Nerve Stimulation