ライフサイエンスコーパス: keratoderma

1 neralized scaling, and frequent palmoplantar keratoderma.

2 athy and the cutaneous disorder palmoplantar keratoderma.

3 nding the pathogenesis of human palmoplantar keratoderma.

4 y by nail dystrophy and painful palmoplantar keratoderma.

5 ngdom identified six individuals with palmar keratoderma.

6 most painful, debilitating aspect is plantar keratoderma.

7 ially normalizes in the outer SC in loricrin keratoderma.

8 re, autosomal recessive form of palmoplantar keratoderma.

9 of British descent with striate palmoplantar keratoderma.

10 by dilated cardiomyopathy, woolly hair, and keratoderma.

11 nherited skin disorder, striate palmoplantar keratoderma.

12 dermis is a key event in the pathogenesis of keratoderma.

13 numerous abnormalities, including cutaneous keratodermas.

14 re known to cause epidermolytic palmoplantar keratoderma, a rare dominant-negative skin disorder, its

15 6 mutation in three families with mutilating keratoderma and deafness [Vohwinkel's syndrome (VS; MIM

16 cessive pattern, manifests with palmoplantar keratoderma and early, destructive periodontitis.

17 trophic nail dystrophy associated with focal keratoderma and multiple pilosebaceous cysts.

18 k between Slurp2 deficiency and palmoplantar keratoderma and to be confident that the disease phenoty

19 romic SNHL, syndromic SNHL with palmoplantar keratoderma, and KID.

20 Mal de Meleda is a rare form of palmoplantar keratoderma, and recently mutations in the ARS (componen

21 sease, diffuse nonepidermolytic palmoplantar keratoderma, and was investigated as a possible candidat

22 ad of autosomal recessive ARVC, palmoplantar keratoderma, and woolly hair (Naxos disease) to chromoso

23 ults in skin fragility, diffuse palmoplantar keratoderma, and woolly hair with no symptoms of cardiom

24 ARVC, diffuse nonepidermolytic palmoplantar keratoderma, and woolly hair.

25 ses, the genetic defects causing many of the keratodermas are still largely unknown.

26 ders, known collectively as the palmoplantar keratodermas, are unified by the phenotypic characterist

27 keratinopathies such as striate palmoplantar keratoderma, as reported in this study.

28 omal dominant disorder, striate palmoplantar keratoderma, as well as an autosomal recessive condition

29 VS is characterized by papular and honeycomb keratoderma associated with constrictions of digits lead

30 hyosis-deafness (KID) syndrome, palmoplantar keratoderma associated with hearing loss, and Vohwinkel

31 port three patients with severe palmoplantar keratoderma associated with ichthyosis and sensorineural

32 role of insertional mutations in Vohwinkel's Keratoderma associated with ichthyosis.

33 C manifests with nail thickening and plantar keratoderma before school age in more than three-quarter

34 Keratodermas comprise a heterogeneous group of highly de

35 Epidermolytic palmoplantar keratoderma (EPPK) is an autosomal dominant genodermatos

36 Epidermolytic palmoplantar keratoderma (EPPK) is one of >30 autosomal-dominant huma

37 Epidermolytic palmoplantar keratoderma (EPPK, MIM #144200) is an autosomal dominant

38 PC) and focal non-epidermolytic palmoplantar keratoderma (FNEPPK).

39 utations in patients with focal palmoplantar keratoderma (FPPK), but debate concerning overlapping ph

40 enetic heterogeneity of striate palmoplantar keratoderma has been demonstrated with pathogenic mutati

41 racterized by focal and diffuse palmoplantar keratoderma, hyperkeratotic plaques on the trunk and lim

42 lude painful and highly debilitating plantar keratoderma, hypertrophic nail dystrophy, oral leukokera

43 ystrophy or nail loss, marginal palmoplantar keratoderma, hypodontia, enamel hypoplasia, oral hyperpi

44 mutant VPS33B causes an autosomal recessive keratoderma-ichthyosis-deafness syndrome.

45 ts; fingernail changes in 40.6%; and plantar keratoderma in 6.9%.

46 at birth, experience worsening palmoplantar keratoderma in childhood, and develop hundreds of normal

47 ce the characteristic ichthyosis of loricrin keratoderma in mouse and man.

48 kening in PC-K6a and PC-K17; (3) more palmar keratoderma in PC-K16; (4) cysts primarily in PC-K17 and

49 ss frequent occurrence of nail dystrophy and keratoderma in PC-K6b, PC-K6c, and PC-K16; (2) concurren

50 (G4134A) that segregates with a palmoplantar keratoderma in three kindreds.

51 olar surface of the paws (i.e., palmoplantar keratoderma), increased keratinocyte proliferation, and

52 Our findings show that palmar keratoderma is a clinical indicator of recessive EPP, id

53 Palmoplantar keratoderma is a hallmark of pachyonychia congenita (PC)

54 The striate form of palmoplantar keratoderma is a rare autosomal dominant disorder affect

55 minant diffuse nonepidermolytic palmoplantar keratoderma is characterized by the adoption of a white,

56 how that the barrier abnormality in loricrin keratoderma is linked to a defective CE scaffold, result

57 ylosis (focal non-epidermolytic palmoplantar keratoderma) is an autosomal dominant skin disorder that

58 bullosa simplex, epidermolytic palmoplantar keratoderma, junctional epidermolysis bullosa, and dystr

59 ion in a previously genotyped human loricrin keratoderma kindred.

60 by sensorineural hearing loss, palmoplantar keratoderma, knuckle pads, and leukonychia, which show c

61 ted in a subset of patients with Vohwinkel's Keratoderma manifesting an associated ichthyosiform derm

62 Palmoplantar keratoderma, nail dystrophy, and enamel defects are comm

63 taneous blisters, epidermolytic palmoplantar keratoderma, nail dystrophy, enamel dysplasia, and spars

64 Focal nonepidermolytic palmoplantar keratoderma, natal teeth, and pili torti may also be pre

65 inant syndrome characterized by palmoplantar keratoderma, oral precursor lesions, and a high lifetime

66 the clinical features of human palmoplantar keratoderma: overcornification and thickening of the epi

67 akin gene which causes a generalized striate keratoderma particularly affecting the palmoplantar epid

68 In the present study, we describe a keratoderma phenotype in mice in response to suprabasal

69 To ascertain the basis for the loricrin keratoderma phenotype, we assessed epidermal structure a

70 Focal non-epidermolytic palmoplantar keratoderma (PPK or palmoplantar ectodermal dysplasia ty

71 26-H73R and Cx26-S183F, causing palmoplantar keratoderma (PPK) and deafness.

72 Palmoplantar keratoderma (PPK) are debilitating lesions that arise in

73 Mutations in SLURP1 cause a palmoplantar keratoderma (PPK) known as mal de Meleda.

74 Painful palmar-plantar keratoderma (PPK) severely impairs mobility in pachyonyc

75 2 domain of keratin 5), striate palmoplantar keratoderma (PPK), and ichthyosis hystrix Curth-Macklin

76 RP1 cause mal de Meleda, a rare palmoplantar keratoderma (PPK).

77 rophy, oral leukokeratosis, and palmoplantar keratoderma (PPK).

78 Palmoplantar keratodermas (PPKs) are a group of disorders that are di

79 The palmoplantar keratodermas (PPKs) are a large group of clinically and

80 PP which is characterized by seasonal palmar keratoderma, relatively low erythrocyte protoporphyrin c

81 enomic DNA from individuals with/without the keratoderma revealed a sequence variant, which would res

82 From soon after birth, the mice exhibited a keratoderma similar to that in humans carrying the Conne

83 inherited skin disease, striate palmoplantar keratoderma (SPPK), mapping to chromosome 18q12.1, in wh

84 naling and is linked to striate palmoplantar keratoderma (SPPK).

85 ation in a proband with striate palmoplantar keratoderma that also results in a null allele and haplo

86 e locus for a syndrome of focal palmoplantar keratoderma (Tylosis) associated with squamous cell oeso

87 with diffuse nonepidermolytic palmar-plantar keratoderma was shown to be the loss in one allele of th

88 the pathogenesis of Naxos disease-associated keratoderma, we generated Jup mutant mice by inactivatin

89 hat understanding the molecular basis of the keratodermas will underscore the importance of the integ

90 ent's dermatologist treated his palmoplantar keratoderma with systemic retinoids.

91 irl with severe nonmutilating (palmo)plantar keratoderma without periorificial keratotic plaques asso