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The Breast Journal Apr 2021
Topics: Breast Neoplasms; Diagnosis, Differential; Epidermal Cyst; Female; Humans; Steatocystoma Multiplex
PubMed: 33527591
DOI: 10.1111/tbj.14179 -
Clinical and Experimental Dermatology Jul 2021Pachyonychia congenita (PC) refers to a group of autosomal dominant disorders caused by mutations in five keratin genes (KRT16,KRT6A,KRT17,KRT6B or KRT6C). Current...
BACKGROUND
Pachyonychia congenita (PC) refers to a group of autosomal dominant disorders caused by mutations in five keratin genes (KRT16,KRT6A,KRT17,KRT6B or KRT6C). Current disease classification is based on the gene harbouring disease-causing variants.
AIMS
We harnessed the International Pachyonychia Congenita Research Registry (IPCRR) containing both clinical and molecular data on patients with PC worldwide, to identify genetic variants predicting disease severity.
METHODS
We ascertained 815 individuals harbouring keratin mutations registered in the IPCRR. We looked for statistically significant associations between genetic variants and clinical manifestations in a subgroup of patients carrying mutations found in at least 10% of the cohort. Data were analysed using χ and Kruskal-Wallis tests.
RESULTS
We identified five mutations occurring in at least 10% of the patients registered in the IPCRR. The KRT16 p.L132P mutation was significantly associated with younger age of onset, presence of palmar keratoderma oral leucokeratosis and a higher number of involved nails. By contrast, the KRT16 p.N125S and p.R127C mutations resulted in a milder phenotype featuring a decreased number of involved nails and older age of onset. Patients carrying the p.N125S mutation were less likely to develop palmar keratoderma while p.R127C was associated with an older age of palmoplantar keratoderma onset. Moreover, the KRT17 p.L99P mutation resulted in an increased number of involved fingernails and patients demonstrating 20-nail dystrophy, while the opposite findings were observed with KRT17 p.N92S mutation.
CONCLUSIONS
We have identified novel and clinically useful genetic predictive variants in the largest cohort of patients with PC described to date.
Topics: Age of Onset; Case-Control Studies; Child, Preschool; Cohort Studies; Genetic Variation; Heterozygote; Humans; Infant; Keratin-16; Keratin-17; Keratin-6; Keratins; Keratoderma, Palmoplantar; Keratosis; Leukoplakia, Oral; Mutation; Nail Diseases; Nails, Malformed; Pachyonychia Congenita; Phenotype; Predictive Value of Tests; Registries; Severity of Illness Index
PubMed: 33486795
DOI: 10.1111/ced.14569 -
Clinical and Experimental Dermatology Mar 2021
Topics: Child, Preschool; Female; Homozygote; Humans; Keratin-6; Mutation, Missense; Pachyonychia Congenita; Pedigree; Severity of Illness Index
PubMed: 33301203
DOI: 10.1111/ced.14494 -
Clinical and Experimental Dermatology Jun 2021Pachyonychia congenita (PC) is a rare autosomal dominant disorder featuring palmoplantar keratoderma, nail dystrophy, oral leucokeratosis, pilosebaceous cysts and natal...
BACKGROUND
Pachyonychia congenita (PC) is a rare autosomal dominant disorder featuring palmoplantar keratoderma, nail dystrophy, oral leucokeratosis, pilosebaceous cysts and natal teeth. PC results from dominant mutations in one of five genes (KRT6A, KRT6B, KRT6C, KRT16, KRT17) encoding keratin proteins.
AIM
To delineate the clinical and genetic features of PC in a series of Israeli patients.
METHODS
We used direct sequencing of genomic DNA, and also used cDNA sequencing where applicable.
RESULTS
We collected clinical information and molecular data in a cohort of Israeli families diagnosed with PC (n = 16). Most of the patients were Ashkenazi Jews and had a family history of PC. The most common clinical findings were painful focal plantar keratoderma (94%) accompanied by nail dystrophy (81%), pilosebaceous cysts (31%) and prenatal/natal teeth (13%). In contrast to the high prevalence of KRT6A mutations in other populations, we found that KRT16 mutations were the most common type among Israeli patients with PC (56%). Most (77%) of the Israeli patients with PC with KRT16 mutation carried the same variant (c.380G>A; p.R127H) and shared the same haplotype around the KRT16 locus, suggestive of a founder effect.
CONCLUSION
The data gleaned from this study emphasizes the importance of population-specific tailored diagnostic strategies.
Topics: Cohort Studies; Female; Genetics, Population; Genotype; Humans; Israel; Male; Molecular Epidemiology; Mutation; Pachyonychia Congenita; Phenotype
PubMed: 33190296
DOI: 10.1111/ced.14509 -
Dermatologic Surgery : Official... Jul 2021
Topics: Adult; Arm; Cryosurgery; Humans; Male; Steatocystoma Multiplex; Ultrasonography, Interventional
PubMed: 32932264
DOI: 10.1097/DSS.0000000000002776 -
Pediatric Dermatology Sep 2020Pachyonychia congenita (PC) is a rare genodermatosis showing heterogeneity with five causative keratin genes (KRT6A, KRT6B, KRT6C, KRT16, or KRT17). Clinically, PC is...
Pachyonychia congenita (PC) is a rare genodermatosis showing heterogeneity with five causative keratin genes (KRT6A, KRT6B, KRT6C, KRT16, or KRT17). Clinically, PC is characterized by hypertrophic onychodystrophy, painful palmoplantar keratoderma, oral leukokeratosis, and follicular hyperkeratosis. We describe an atypical case of PC in a young Chinese girl presenting with generalized bullae and identified a recurrent heterozygous missense mutation c.1406T > C (p.Leu469Pro) in KRT6A. This suggests that bullae may represent an important feature of KRT6A-related PC.
Topics: Blister; Female; Humans; Keratin-6; Keratoderma, Palmoplantar; Mutation; Pachyonychia Congenita
PubMed: 32662074
DOI: 10.1111/pde.14285 -
American Family Physician May 2020
Topics: Adult; Callosities; Diagnosis, Differential; Foot; Hand; Humans; Male; Pachyonychia Congenita
PubMed: 32412219
DOI: No ID Found -
Journal of Cosmetic Dermatology Jan 2021Steatocystoma multiplex (SM) is a disorder of the pilosebaceous unit characterized by multiple sebum-containing dermal cysts. Psychological distress of patients is...
BACKGROUND
Steatocystoma multiplex (SM) is a disorder of the pilosebaceous unit characterized by multiple sebum-containing dermal cysts. Psychological distress of patients is always derived from these undesirable lesions. Although various treatments have been attempted to improve cosmetic outcomes, no optimal treatment strategy has been established to date..
AIMS
To provide a facile and practical surgical technique combined with tissue adhesive for the treatment of steatocystoma multiplex.
METHOD
Forty patients diagnosed as SM were treated with simple modified surgical technique. After local anesthesia, the surface skin was incised about 1-2 mm using a No. 11 blade. When the wall was punctured, the cyst should be squeezed to cause the contents to come out first. Then, we used single toothed forceps which were inserted through the narrow incision. When the cyst was exposed, the mosquito forceps grasp the portion of the cyst and pull it out gently. Then, the incisions were pressed locally, and tissue adhesive was employed to align them when there was no bleeding. We just took approximately 1-2 minutes to excise one cyst completely.
RESULT
We successfully treated forty SM patients with our simple modified surgical technique. After treatment, excellent clinical outcomes and minimal adverse effects were observed in this study. And more importantly, no recurrence was found 12 months after the surgery.
CONCLUSION
Our simple modified surgical technique was proved to be practical and have excellent results in the long run. We highly recommend this treatment technique as the first-line therapy for SM.
Topics: Cysts; Epidermal Cyst; Humans; Neoplasm Recurrence, Local; Steatocystoma Multiplex; Tissue Adhesives
PubMed: 32390282
DOI: 10.1111/jocd.13438 -
Indian Journal of Dermatology,... 2020
The rationale of ideal pulse duration and pulse interval in the treatment of steatocystoma multiplex using the carbon dioxide laser in a super-pulse mode as opposed to the ultra-pulse mode.
Topics: Humans; Laser Therapy; Lasers, Gas; Male; Middle Aged; Steatocystoma Multiplex
PubMed: 32362600
DOI: 10.4103/ijdvl.IJDVL_154_19 -
Journal of Ultrasound in Medicine :... Nov 2020The ultrasound features of 87 steatocytoma multiplex (SCM) lesions detected in 9 patients are reported. Steatocytoma multiplex is a hamartomatous condition derived from...
The ultrasound features of 87 steatocytoma multiplex (SCM) lesions detected in 9 patients are reported. Steatocytoma multiplex is a hamartomatous condition derived from the pilosebaceous duct junction that generates multiple cutaneous cystic lesions. It appeared as clusters of well-defined hypoechoic nodules with mild posterior enhancement in 100% of cases, with both dermal and subcutaneous locations in 67%. No calcification foci were detected within or at the periphery of the lesions. Fifty-six percent of the cases showed signs of hypervascularity in the edge of the nodules, and 44% of the lesions were associated with another dermatologic condition, most frequent being hidradenitis suppurativa (75%), followed by vellus hair cysts (25%). Steatocytoma multiplex shows ultrasound features that allow discrimination from other common cutaneous entities.
Topics: Cysts; Epidermal Cyst; Hamartoma; Hidradenitis Suppurativa; Humans; Steatocystoma Multiplex; Ultrasonography
PubMed: 32356597
DOI: 10.1002/jum.15320