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Quoted phrase not found in phrase index: "T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant"
Page 1
Dyskeratosis congenita.
Handley TP, McCaul JA, Ogden GR. Handley TP, et al. Oral Oncol. 2006 Apr;42(4):331-6. doi: 10.1016/j.oraloncology.2005.06.007. Epub 2005 Sep 2. Oral Oncol. 2006. PMID: 16140563 Review.
Dyskeratosis congenita is an inherited disorder that usually presents in males, consisting of the triad of leukoplakia of the mucous membranes, nail dystrophy and skin pigmentation. Whilst most cases are X-linked, autosomal dominant and recessive forms …
Dyskeratosis congenita is an inherited disorder that usually presents in males, consisting of the triad of leukoplakia of the mucous membran …
Management of Plantar KeratodermasLessons from Pachyonychia Congenita.
Porter RM, Bravo AA, Smith FJD. Porter RM, et al. J Am Podiatr Med Assoc. 2017 Sep;107(5):428-435. doi: 10.7547/16-043. J Am Podiatr Med Assoc. 2017. PMID: 29077501 Review.
Diagnosis can be aided by observation of other clinical manifestations, such as palmar keratoderma, more widespread hyperkeratosis of the epidermis, hair and nail dystrophies, or erythroderma. However, there are frequent cases of plantar keratoderma that occur in is …
Diagnosis can be aided by observation of other clinical manifestations, such as palmar keratoderma, more widespread hyperkeratosis of the ep …
Dystrophic epidermolysis bullosa.
Burkhart CG, Ruppert ES. Burkhart CG, et al. Clin Pediatr (Phila). 1981 Aug;20(8):493-6. doi: 10.1177/000992288102000801. Clin Pediatr (Phila). 1981. PMID: 7249491
The three forms of dystrophic epidermolysis bullosa include the autosomal recessive form and two autosomal dominant variants, the Cockayne-Touraine and Pasini forms. Whereas all three forms are clinically characterized by milia, nail dystrophy, …
The three forms of dystrophic epidermolysis bullosa include the autosomal recessive form and two autosomal dominant var …
Phenotype and genotype features of Vietnamese children with pachyonychia congenita.
Chu HT, Dinh Duong TA, Le DH, Le TV, Nguyen BB, Dang CV, Vu QV. Chu HT, et al. Pediatr Neonatol. 2023 Jul;64(4):405-410. doi: 10.1016/j.pedneo.2022.09.018. Epub 2023 Jan 3. Pediatr Neonatol. 2023. PMID: 36658016 Free article.
BACKGROUND: Pachyonychia congenita (PC) is a group of autosomal dominant disorders caused by mutations in one of five keratin genes (KRT6A, KRT6B, KRT6C, KRT16, or KRT17). ...One mutation (N172del) was common to 5/7 (71.4%) of the patients. CONCLUSIONS: Individuals …
BACKGROUND: Pachyonychia congenita (PC) is a group of autosomal dominant disorders caused by mutations in one of five keratin …
Identification of clinically useful predictive genetic variants in pachyonychia congenita.
Samuelov L, Sarig O, Adir N, Pavlovsky M, Smith FJ, Schwartz J, Hansen CD, Sprecher E. Samuelov L, et al. Clin Exp Dermatol. 2021 Jul;46(5):867-873. doi: 10.1111/ced.14569. Epub 2021 Mar 17. Clin Exp Dermatol. 2021. PMID: 33486795
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). ...Moreover, the KRT17 p.L99P mutation resulted in an increased number of involved fingernails and …
BACKGROUND: Pachyonychia congenita (PC) refers to a group of autosomal dominant disorders caused by mutations in five keratin …
The histopathological features of the nail plate in pachyonychia congenita.
Stewart CL, Takeshita J, Hansen CD, Rubin AI. Stewart CL, et al. J Cutan Pathol. 2020 Apr;47(4):357-362. doi: 10.1111/cup.13630. Epub 2020 Jan 9. J Cutan Pathol. 2020. PMID: 31845382 Clinical Trial.
While nail dystrophy in PC has a significant impact on quality of life, the histopathological features of the nail plate in PC have not been previously reported. ...There was a significant association between clinical dystrophy of all 20 nails a …
While nail dystrophy in PC has a significant impact on quality of life, the histopathological features of the nail plat …
Molecular epidemiology of pachyonychia congenita in the Israeli population.
Pavlovsky M, Peled A, Samuelov L, Malki L, Malovitski K, Assaf S, Mohamad J, Meijers O, Eskin-Schwartz M, Sarig O, Sprecher E. Pavlovsky M, et al. Clin Exp Dermatol. 2021 Jun;46(4):663-668. doi: 10.1111/ced.14509. Epub 2020 Dec 20. Clin Exp Dermatol. 2021. PMID: 33190296
BACKGROUND: Pachyonychia congenita (PC) is a rare autosomal dominant disorder featuring palmoplantar keratoderma, nail dystrophy, oral leucokeratosis, pilosebaceous cysts and natal teeth. ...The most common clinical findings were painful focal plantar …
BACKGROUND: Pachyonychia congenita (PC) is a rare autosomal dominant disorder featuring palmoplantar keratoderma, nail …
Simultaneous kidney and pancreas transplantation in a patient with nail-patella syndrome and insulin-dependent diabetes.
Sloane P, Hunter JD, Lin JJ, Chen A. Sloane P, et al. Pediatr Nephrol. 2023 Jun;38(6):1985-1989. doi: 10.1007/s00467-022-05817-6. Epub 2022 Nov 24. Pediatr Nephrol. 2023. PMID: 36434354
BACKGROUND: Nail-patella syndrome (NPS) is a rare autosomal dominant disorder caused by a mutation in LIM-homeodomain transcription factor 1-beta (LMX1B) and characterized by nail dystrophy, skeletal changes, glaucoma, and kidney disease with up …
BACKGROUND: Nail-patella syndrome (NPS) is a rare autosomal dominant disorder caused by a mutation in LIM-homeodomain t …
Revisiting pachyonychia congenita: a case-cohort study of 815 patients.
Samuelov L, Smith FJD, Hansen CD, Sprecher E. Samuelov L, et al. Br J Dermatol. 2020 Mar;182(3):738-746. doi: 10.1111/bjd.18794. Epub 2020 Jan 14. Br J Dermatol. 2020. PMID: 31823354
BACKGROUND: Pachyonychia congenita (PC) is a group of autosomal dominant disorders caused by mutations in one of five keratin genes (KRT6A, KRT6B, KRT6C, KRT16, KRT17). ...The main clinical features are nail dystrophy, palmoplantar keratoderma, oral le …
BACKGROUND: Pachyonychia congenita (PC) is a group of autosomal dominant disorders caused by mutations in one of five keratin …
Dominant dystrophic epidermolysis bullosa presenting as familial nail dystrophy.
Dharma B, Moss C, McGrath JA, Mellerio JE, Ilchyshyn A. Dharma B, et al. Clin Exp Dermatol. 2001 Jan;26(1):93-6. Clin Exp Dermatol. 2001. PMID: 11260188
We present a three-generation family with an autosomal dominant history of dystrophic nails, but without skin fragility or trauma-induced blisters. ...A diagnosis of dominant dystrophic EB should be considered in families with autosomal domin …
We present a three-generation family with an autosomal dominant history of dystrophic nails, but without skin fragility …
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