ライフサイエンスコーパス: cutis

1 ltrate should not be interpreted as leukemia cutis.

2 he proposed medical therapies for calcinosis cutis.

3 siform eczema, 30.6%; eczema, 23.5%; xerosis cutis, 10.6%; palmoplantar pustulosis, 5.3%; psoriasis,

4 Erythrophagocytosis (70%), leukemia cutis (58%), and disseminated intravascular coagulation

5 RF8) were also commonly negative in leukemia cutis (acute myeloid leukemia in the skin), a tumor that

6 leads to autosomal recessive hyperelastosis cutis, also known as hereditary equine regional dermal a

7 ts BTB domain, and mutations in TFAP2A cause cutis aplasia in individuals with branchiooculofacial sy

8 autosomal-dominant disorder characterized by cutis aplasia of the scalp; minor anomalies of the exter

9 terized by congenital limb defects and scalp cutis aplasia.

10 history of SLE who presented with calcinosis cutis at the time of SLE diagnosis developed a large, ul

11 es have led to the identification of aplasia cutis-causing mutations in genes that have previously no

12 characterized by the combination of aplasia cutis congenita (ACC) and terminal transverse limb defec

13 der characterized by the presence of aplasia cutis congenita (ACC) of the scalp vertex and terminal l

14 ic contracture (CVIC) and unilateral aplasia cutis congenita (ACC) type VII of the forearm presents a

15 ion disorder consisting primarily of aplasia cutis congenita of the vertex scalp and transverse termi

16 nch-American-British type M5a) with leukemia cutis developed in a patient 6 weeks after the initiatio

17 d proteinosis (LP), also known as hyalinosis cutis et mucosae or Urbach-Wiethe disease (OMIM 247100)

18 Beare-Stevenson cutis gyrata syndrome (BSS) is a human genetic disorder

19 Beare-Stevenson cutis gyrata syndrome (MIM 123790) is an autosomal domin

20 on of FGFR2 mutations in the Beare-Stevenson cutis gyrata syndrome.

21 cts of the FGFR2 Y394C mutation evidenced by cutis gyrata, acanthosis nigricans, and craniosynostosis

22 aracterized by the furrowed skin disorder of cutis gyrata, acanthosis nigricans, craniosynostosis, cr

23 iffer, Apert, Jackson-Weiss, Beare-Stevenson cutis gyrata, and Antley-Bixler syndromes, and Kleeblaat

24 Recent data on therapy for calcinosis cutis highlights that more prospective studies are neede

25 terized by facial lesions resembling aplasia cutis in a preauricular distribution along the line of f

26 Calcinosis cutis is common in several connective tissue diseases bu

27 Cutis laxa (CL) is a condition characterized by redundan

28 Cutis laxa (CL) is a heterogeneous group of genetic and

29 , age-related macular degeneration (AMD) and cutis laxa (CL), but the biochemical basis for the patho

30 y of diseases, ranging from retinopathies to cutis laxa (CL).

31 heterozygous mutation in fibulin-5 can cause cutis laxa and also suggest that fibulin-5 and elastin g

32 bulin-5 with features of autosomal recessive cutis laxa and marked defects in elastic fiber formation

33 Variable lipoatrophy and cutis laxa are the basis for a progeroid appearance.

34 r data provide insights into the etiology of cutis laxa diseases and will have immediate impact on di

35 The pathogenesis of cutis laxa in this condition is poorly understood.

36 Cutis laxa is a condition characterized by redundant, pe

37 Inherited cutis laxa is a connective tissue disorder characterized

38 Acquired cutis laxa is a rare cutaneous manifestation of hematolo

39 ructural differences for the disease-causing cutis laxa mutants and for one AMD variant (G412E), sugg

40 Both cutis laxa mutants increased dimerization.

41 tosomal dominant cutis laxa, we engineered a cutis laxa mutation (single base deletion) into the huma

42 We conclude that recessive cutis laxa mutations in fibulin-5 result in misfolding,

43 istological analysis of skin sections from a cutis laxa patient with a homozygous S227P mutation show

44 itative defects in elastin, resulting in the cutis laxa phenotype.

45 c recoil in affected tissues and explain the cutis laxa phenotype.

46 This phenotype, which resembles the cutis laxa syndrome in humans, reveals a critical functi

47 clinical and molecular spectrum of metabolic cutis laxa syndromes and further link defective extracel

48 protein 4 (LTBP4) cause autosomal recessive cutis laxa type 1C.

49 Autosomal recessive cutis laxa type 2 (ARCL2), a syndrome of growth and deve

50 collectively denoted as autosomal-recessive cutis laxa type 3 (ARCL3).

51 r elastogenesis, lead to autosomal recessive cutis laxa types 1B and 1A, respectively.

52 tance, and a family with autosomal recessive cutis laxa was recently reported to have a homozygous mi

53 of P5CS, cause an autosomal-dominant form of cutis laxa with progeroid features.

54 properties of the elastin protein (dominant cutis laxa).

55 ompliance, severe emphysema, and loose skin (cutis laxa).

56 Congenital cutis laxa, a rare syndrome with marked skin laxity and

57 in five families affected by mild to severe cutis laxa, dysmorphic facial features, and cardiopulmon

58 tion disease (HCDD) associated with acquired cutis laxa, renal involvement, and hypocomplementemia an

59 ic fibers, the histopathological hallmark of cutis laxa, transmission electron microscopy of the derm

60 ne fractures at birth and was diagnosed with cutis laxa, vascular tortuosity, ascending aortic aneury

61 gene mutations leading to autosomal dominant cutis laxa, we engineered a cutis laxa mutation (single

62 mpaired elastic fiber formation in recessive cutis laxa, we have investigated two disease-causing mis

63 ement in patients with post-Sweet's syndrome cutis laxa.

64 ibulin 5 mutations cause autosomal-recessive cutis laxa.

65 All patients had cutis laxa.

66 subtypes of Ehlers-Danlos syndrome (EDS) and cutis laxa.

67 ion and cause the connective tissue disorder cutis laxa.

68 d diseases supravalvular aortic stenosis and cutis laxa.

69 s 1-5 in fibroblasts from five patients with cutis laxa.

70 otype, the rare autosomal dominant condition cutis laxa.

71 Myeloid sarcoma (MS) and leukemia cutis (LC) represent 2 well-known EM manifestations with

72 Aplasia cutis manifests with localized skin defects at birth and

73 rare disease with major features of aplasia cutis of the scalp and terminal transverse limb defects.

74 ytic sarcoma, subcutaneous nodules, leukemia cutis, or meningeal leukemia) at initial presentation.

75 It is characterized by calcinosis cutis, Raynaud's phenomenon, esophageal involvement, scl

76 Clinical features of the CREST (calcinosis cutis, Raynaud's syndrome, esophageal dysmotility, scler