Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Hereditary diffuse palmoplantar keratoderma (disorder) |
Finding site |
True |
Entire skin of palmar area of hand (body structure) |
Inferred relationship |
Some |
1 |
Palmoplantar keratoderma transgrediens |
Finding site |
True |
Entire skin of palmar area of hand (body structure) |
Inferred relationship |
Some |
1 |
Acroerythrokeratoderma (disorder) |
Finding site |
True |
Entire skin of palmar area of hand (body structure) |
Inferred relationship |
Some |
1 |
Progressive palmoplantar keratoderma of Greither |
Finding site |
True |
Entire skin of palmar area of hand (body structure) |
Inferred relationship |
Some |
1 |
Epidermolytic palmoplantar keratoderma of Vorner |
Finding site |
True |
Entire skin of palmar area of hand (body structure) |
Inferred relationship |
Some |
1 |
Diffuse palmoplantar keratoderma of Thost-Unna (disorder) |
Finding site |
True |
Entire skin of palmar area of hand (body structure) |
Inferred relationship |
Some |
1 |
Haim-Munk syndrome (HMS) is characterized by palmoplantar hyperkeratosis, severe early-onset periodontitis, onychogryposis, pes planus, arachnodactyly and acroosteolysis. |
Finding site |
True |
Entire skin of palmar area of hand (body structure) |
Inferred relationship |
Some |
3 |
Diffuse palmoplantar keratoderma-acrocyanosis syndrome is characterized by the association of diffuse palmoplantar keratoderma and acrocyanosis. It has been described in eight members of one family and in two sporadic cases. The mode of inheritance in the familial cases was autosomal dominant. |
Finding site |
True |
Entire skin of palmar area of hand (body structure) |
Inferred relationship |
Some |
2 |
Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome is characterised by sex reversal in males with a 46, XX (SRY-negative) karyotype, palmoplantar hyperkeratosis and a predisposition to squamous cell carcinoma. To date, five cases (four of whom were brothers) have been described. The aetiology is unknown. |
Finding site |
True |
Entire skin of palmar area of hand (body structure) |
Inferred relationship |
Some |
3 |
A rare autosomal recessive, isolated diffuse palmoplantar keratoderma characterized by transgressive and nonprogressive palmoplantar keratoderma resembling a mild form of mal de Meleda. |
Finding site |
True |
Entire skin of palmar area of hand (body structure) |
Inferred relationship |
Some |
2 |
A rare, genetic, neurocutaneous disease characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis. Patients present with a unique constellation of clinical signs described with the acronym CEDNIK: CErebral Dysgenesis, Neuropathy, Ichthyosis, and palmoplantar Keratoderma. |
Finding site |
True |
Entire skin of palmar area of hand (body structure) |
Inferred relationship |
Some |
3 |
Keratosis palmaris et plantaris-clinodactyly syndrome is characterized by the association of palmoplantar keratosis with clinodactyly of the fifth finger. Less than 20 cases have been described in the literature so far, and the majority of reported patients were of Mexican origin. Transmission is autosomal dominant. |
Finding site |
True |
Entire skin of palmar area of hand (body structure) |
Inferred relationship |
Some |
3 |
A rare isolated diffuse palmoplantar keratoderma characterized by diffuse, homogeneous, mild to thick, brown-to-yellowish palmoplantar hyperkeratosis (sometimes spreading over the dorsal aspect of fingers). Skin biopsy shows non-epidermolytic changes. There are no changes in hair, teeth or nails, and no syndromic involvement of other organs. |
Finding site |
True |
Entire skin of palmar area of hand (body structure) |
Inferred relationship |
Some |
1 |
Hereditary palmoplantar keratoderma, Gamborg-Nielsen type is characterized by the presence of diffuse palmoplantar keratoderma without associated symptoms. The syndrome has been described in multiple families from the northernmost county of Sweden (Norrbotten). The palmoplantar keratoderma found in the Gamborg-Nielsen type disease is milder than that found in Mal de Meleda but more severe than that found in Thost-Unna palmoplantar keratoderma. Transmission is autosomal recessive. |
Finding site |
True |
Entire skin of palmar area of hand (body structure) |
Inferred relationship |
Some |
1 |
A rare, genetic, ectodermal dysplasia syndrome characterized by persistent skin fragility which manifests with blistering and erosions due to minimal trauma, wooly hair with variable alopecia, hyperkeratotic nail dysplasia, diffuse or focal palmoplantar keratoderma with painful fissuring, and no cardiac abnormalities. Perioral hyperkeratosis may also be associated. |
Finding site |
True |
Entire skin of palmar area of hand (body structure) |
Inferred relationship |
Some |
5 |
A rare, genetic, isolated palmoplantar keratoderma characterized by non-epidermolytic, diffuse hyperkeratotic lesions affecting both the palms and the soles, associated with a tendency of painful fissuring. Contrary to the clinical findings, histologic examination reveals findings suggestive of keratosis palmoplantaris striata, with orthohyperkeratosis featuring widening of the intercellular spaces and disadhesion of keratocytes in the upper epidermal layers. |
Finding site |
True |
Entire skin of palmar area of hand (body structure) |
Inferred relationship |
Some |
1 |
Curly hair-acral keratoderma-caries syndrome is an extremely rare ectodermal dysplasia syndrome characterized by premature loss of curly, brittle, dry hair, premature loss of teeth due to caries, nail dystrophy with thickening of the finger- and toenails, acral keratoderma and hypohidrosis. Additionally, sparse eyebrows and eyelashes, receding frontal hairline and flattened malar region are associated. The severity of features appears to increase with age. |
Finding site |
True |
Entire skin of palmar area of hand (body structure) |
Inferred relationship |
Some |
7 |
Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome is a rare, genetic, syndromic intellectual disability disorder characterised by severe intellectual disability with significant speech and language impairment, hypohidrosis (often resulting in hyperthermia) with normal sweat gland appearance, tooth enamel hypoplasia, palmoplantar hyperkeratosis and a high frequency of acquired microcephaly. Mild facial dysmorphism, including lateral flaring of the eyebrows, broad nasal tip, and thick vermilion border, may also be observed. |
Finding site |
True |
Entire skin of palmar area of hand (body structure) |
Inferred relationship |
Some |
1 |
A rare ophthalmic disorder characterized by corneal opacification and dyskeratosis (which may cause visual impairment), associated with systemic features including palmoplantar hyperkeratosis, laryngeal dyskeratosis, pruritic hyperkeratotic scars, chronic rhinitis, dyshidrosis and/or nail thickening. |
Finding site |
True |
Entire skin of palmar area of hand (body structure) |
Inferred relationship |
Some |
2 |
Papillon-Lefèvre syndrome |
Finding site |
True |
Entire skin of palmar area of hand (body structure) |
Inferred relationship |
Some |
2 |
Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome is an inherited epidermal disorder characterized by palmoplantar keratoderma, linear hyperkeratotic papules on the flexural side of large joints (cord-like distribution around wrists, in antecubital and popliteal folds), hyperkeratotic plaques (on neck, axillae, elbows, wrists, and knees), mild ichthyosiform scaling, and sclerotic constrictions around fingers that present flexural deformities. |
Finding site |
True |
Entire skin of palmar area of hand (body structure) |
Inferred relationship |
Some |
2 |
Palmoplantar hyperkeratosis sclerodactyly syndrome (disorder) |
Finding site |
True |
Entire skin of palmar area of hand (body structure) |
Inferred relationship |
Some |
3 |
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder) |
Finding site |
True |
Entire skin of palmar area of hand (body structure) |
Inferred relationship |
Some |
6 |
A rare, genetic, isolated diffuse palmoplantar keratoderma characterized by diffuse, mild to thick, finely demarcated hyperkeratosis of palms and soles. Additional clinical findings include knuckle pad-like keratoses on fingers, hyperkeratosis of umbilicus and areolae, diffuse dry skin, hyperhidrosis, hangnails and frequent fungal infections. Histological examination of lesions reveals orthokeratotic hyperkeratosis, acanthosis, hypergranulosis, and mild lymphocyte infiltrations in the upper dermis with no evidence of epidermolysis. |
Finding site |
True |
Entire skin of palmar area of hand (body structure) |
Inferred relationship |
Some |
1 |
A rare genetic skin disease characterised by infantile onset of diffuse alopecia, abnormal skin pigmentation (hypo- and hyperpigmented macules of the trunk and face and areas of reticular hypo- and hyperpigmentation of the extremities), palmoplantar keratoderma, and nail dystrophy. Patients develop recurrent spinocellular carcinomas later in life. Brittle teeth resulting in early loss of dentition have also been described. |
Finding site |
True |
Entire skin of palmar area of hand (body structure) |
Inferred relationship |
Some |
2 |
Schöpf-Schulz-Passarge syndrome |
Finding site |
True |
Entire skin of palmar area of hand (body structure) |
Inferred relationship |
Some |
2 |