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Results: 16

1.

Pachyonychia congenita syndrome

Pachyonychia congenita (PC) is characterized by hypertrophic nail dystrophy, painful palmoplantar keratoderma and blistering, oral leukokeratosis, pilosebaceous cysts (including steatocystoma and vellus hair cysts), palmoplantar hyperhydrosis, and follicular keratoses on the trunk and extremities. [from GeneReviews]

MedGen UID:
78556
Concept ID:
C0265334
Disease or Syndrome
2.

Hereditary palmoplantar keratoderma

Group of mostly hereditary disorders characterized by thickening of the palms and soles as a result of excessive keratin formation leading to hypertrophy of the stratum corneum (hyperkeratosis). [from MeSH]

MedGen UID:
44017
Concept ID:
C0022596
Disease or Syndrome
3.

Palmoplantar keratoderma

MedGen UID:
400147
Concept ID:
C1862859
Finding
4.

Epidermolytic palmoplantar keratoderma

Palmoplantar keratoderma (PPK) is a common hereditary cutaneous disorder characterized by marked hyperkeratosis on the surface of palms and soles (Hennies et al., 1995). PPK has been classified into diffuse, focal, and punctate forms according to the pattern of hyperkeratosis on the palms and soles (Lucker et al., 1994). Diffuse PPK develops at birth or shortly thereafter and involves the entire palm and sole with a sharp cutoff at an erythematous border; there are no lesions outside the volar skin, and, in particular, no follicular or oral lesions. In contrast, focal PPK is a late-onset form in which focal hyperkeratotic lesions develop in response to mechanical trauma; an important distinguishing feature is the presence of lesions at other body sites, e.g., oral and follicular hyperkeratosis (Stevens et al., 1996). Palmoplantar keratodermas can be further subdivided histologically into epidermolytic and nonepidermolytic PPK (Risk et al., 1994). Genetic Heterogeneity of Palmoplantar Keratoderma Nonepidermolytic palmoplantar keratoderma (NEPPK; 600962) is caused by mutation in the KRT1 gene. A focal form of NEPPK (FNEPPK1; 613000) is caused by mutation in the KRT16 gene (148067). Another focal form, FNEPPK2 (616400), is caused by mutation in the TRPV3 gene (607066); mutation in TRPV3 can also cause Olmsted syndrome (OLMS; 614594), a severe mutilating form of PPK. The diffuse Bothnian form of NEPPK (PPKB; 600231) is caused by mutation in the AQP5 gene (600442). The Nagashima type of nonepidermolytic diffuse PPK (PPKN; 615598) is caused by mutation in the SERPINB7 gene (603357). A generalized form of epidermolytic hyperkeratosis (EHK; 113800), also designated bullous congenital ichthyosiform erythroderma (BCIE), is caused by mutation in the keratin genes KRT1 and KRT10 (148080). For a discussion of punctate PPK, see 148600; for a discussion of striate PPK, see 148700. [from OMIM]

MedGen UID:
354561
Concept ID:
C1721006
Congenital Abnormality
5.

Ectodermal dysplasia

A group of inherited disorders characterized by malformations of the structures that derive from the ectoderm, such as hair, teeth, nails and sweat glands. [from NCI]

MedGen UID:
8544
Concept ID:
C0013575
Disease or Syndrome
6.

Nail dystrophy

Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate. [from HPO]

MedGen UID:
506219
Concept ID:
CN007394
Finding
7.

Ectodermal dysplasia

Ectodermal dysplasia is a group of conditions in which there is abnormal development of the skin, hair, nails, teeth, or sweat glands. [from HPO]

MedGen UID:
504666
Concept ID:
CN000906
Finding
8.

Palmoplantar keratoderma, nonepidermolytic, focal

Focal palmoplantar keratoderma is a skin condition characterized by the development of painful blisters and calluses on the soles of the feet and, less commonly, on the palms of the hands. The skin abnormalities usually begin in childhood, and they primarily affect areas that experience trauma or friction. Severe blisters and calluses on the feet can cause pain and difficulty walking. Some people with focal palmoplantar keratoderma also have very mild abnormalities of the fingernails and toenails. [from GHR]

MedGen UID:
414110
Concept ID:
C2751804
Disease or Syndrome
9.

Thoracomelic dysplasia

MedGen UID:
336441
Concept ID:
C1848863
Disease or Syndrome
10.

Diffuse palmoplantar keratoderma, Bothnian type

Hereditary palmoplantar keratoderma is characterized by hyperkeratosis of the skin of palms and soles. Lind et al. (1994) described an autosomal dominant form of diffuse nonepidermolytic PPK, designated PPK type Bothnia, which has a high prevalence of 0.3 to 0.55% in the 2 northernmost provinces of Sweden, situated to the west and the northwest of the Gulf of Bothnia. The Bothnian form is frequently complicated by fungal infections and lacks the histopathologic features distinctive of epidermolytic PPK (144200). For discussion of phenotypic and genetic heterogeneity of palmoplantar keratoderma (PPK), see epidermolytic PPK (144200). [from OMIM]

MedGen UID:
325011
Concept ID:
C1838359
Disease or Syndrome
11.

Autosomal dominant inheritance

Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous). [from NCI]

MedGen UID:
141047
Concept ID:
C0443147
12.

Inborn genetic diseases

Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero. [from MeSH]

MedGen UID:
181981
Concept ID:
C0950123
Disease or Syndrome
13.

Multiple congenital anomalies

MedGen UID:
7806
Concept ID:
C0000772
Congenital Abnormality
14.

Ectodermal dysplasia, hidrotic, Christianson-Fourie type

MedGen UID:
371322
Concept ID:
C1832411
Disease or Syndrome
15.

Keratosis palmoplantaris striata 1

Striate palmoplantar keratoderma belongs to a group of skin diseases in which there is thickening of the skin on the palms and soles. The striate form is characterized by longitudinal hyperkeratotic lesions extending the length of each finger to the palm, and hyperkeratotic lesions are restricted to regions of the body where pressure and abrasion are greatest (summary by Hunt et al., 2001). Patients with diffuse or focal forms of keratoderma associated with mutation in the DSG1 gene have also been reported (Keren et al., 2005; Milingou et al., 2006). Genetic Heterogeneity of Keratosis Palmoplantaris Striata Type II PPKS (PPKS2; 612908) is caused by mutation in the DSP gene (125647) on chromosome 6. Type III PPKS (PPKS3; 607654) is caused by mutation in the keratin-1 gene (KRT1; 139350) on chromosome 12q. For a general phenotypic description and a discussion of genetic heterogeneity of palmoplantar keratoderma (PPK), see epidermolytic PPK (144200). Nitoiu et al. (2014) reviewed desmosome biology in cardiocutaneous syndromes and inherited skin disease, including discussion of the involvement of the DSG1 and DSP genes. [from OMIM]

MedGen UID:
332027
Concept ID:
C1835661
Disease or Syndrome
16.

Twenty nail dystrophy

Many types of nonsyndromic congenital nail disorders (NDNC) have been described. Twenty-nail dystrophy (TND), also known as trachyonychia (from the Greek for 'rough nails'), is an autosomal dominant nail dystrophy characterized by excessive longitudinal striations and numerous superficial pits on the nails, which have a distinctive rough sandpaper-like appearance. Occasionally some nails are spared. The slowly progressive condition is usually apparent at birth and may be self-limiting, with spontaneous resolution in some patients (summary by Sehgal, 2007). TND is referred to here as nonsyndromic congenital nail disorder-1 (NCNC1). Other Nonsyndromic Congenital Nail Disorders Other nonsyndromic congenital nail disorders include koilonychia (NDNC2; 149300); leukonychia (NDNC3; 151600) caused by mutation in the PLCD1 gene (602142) on chromosome 3p22-p21.3; anonychia/hyponychia (NDNC4; 206800) caused by mutation in the RSPO4 gene (610673) on chromosome 20p13; partial onycholysis with scleronychia (NDNC5; 164800); anonychia of thumbs with onychodystrophy of other nails (NDNC6; 107000); onychodystrophy mapping to chromosome 17p13 (NDNC7; 605779); toenail dystrophy (NDNC8; 607523) caused by mutation in the COL7A1 gene (120120) on chromosome 3p21.3; onychodystrophy mapping to chromosome 17q25.1-q25.3 (NDNC9; 614149); and onychodystrophy (NDNC10; 614157) caused by mutation in the FZD6 gene (603409) on chromosome 8q22.3-q23.1. [from OMIM]

MedGen UID:
96056
Concept ID:
C0406443
Disease or Syndrome

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