Melanoma, and Hyperhidrosis

Diseases related with Melanoma and Hyperhidrosis

In the following list you will find some of the most common rare diseases related to Melanoma and Hyperhidrosis that can help you solving undiagnosed cases.

Top matches:

Papillon-Lefèvre syndrome (PLS) is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with early-onset periodontitis.

PAPILLON-LEFÈVRE SYNDROME Is also known as keratosis palmoplantar-periodontopathy syndrome|pls|keratosis palmoplantaris with periodontopathia

Related symptoms:

  • Intellectual disability
  • Neoplasm
  • Abnormality of the dentition
  • Recurrent respiratory infections
  • Hyperhidrosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PAPILLON-LEFÈVRE SYNDROME

Hailey-Hailey disease, also known as benign chronic pemphigus, is a rare autosomal dominant cutaneous disorder that usually becomes manifest in the third or fourth decade of life with erythema, vesicles, and erosions involving the body folds, particularly the groin and axillary regions. Other sites of the body, such as the neck, perianal, and submammary regions, may likewise be affected (summary by Poblete-Gutierrez et al., 2004).This disorder was first described by the dermatologist brothers Hailey and Hailey (1939).

BENIGN CHRONIC PEMPHIGUS; BCPM Is also known as hhd|hailey-hailey disease|pemphigus, benign familial

Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Neoplasm
  • Pain


SOURCES: OMIM MENDELIAN

More info about BENIGN CHRONIC PEMPHIGUS; BCPM

Mutilating palmoplantar keratoderma (PPK) with periorificial keratotic plaques (also known as Olmsted syndrome) is a hereditary palmoplantar keratoderma characterized by the combination of bilateral mutilating transgredient palmoplantar keratoderma and periorificial keratotic plaques.

MUTILATING PALMOPLANTAR KERATODERMA WITH PERIORIFICIAL KERATOTIC PLAQUES Is also known as palmoplantar and periorificial keratoderma|mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques|olms|olmsted syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about MUTILATING PALMOPLANTAR KERATODERMA WITH PERIORIFICIAL KERATOTIC PLAQUES

Other less relevant matches:

Related symptoms:

  • Seizures
  • Arrhythmia
  • Hyperhidrosis
  • Aganglionic megacolon
  • Abnormal autonomic nervous system physiology


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about HIRSCHSPRUNG DISEASE-GANGLIONEUROBLASTOMA SYNDROME

Pachyonychia congenita (PC) is an autosomal dominant genodermatosis with the main clinical features of hypertrophic nail dystrophy, painful and highly debilitating plantar keratoderma, oral leukokeratosis, and a variety of epidermal cysts. Although the condition had previously been subdivided clinically into Jadassohn-Lewandowsky PC type 1 and Jackson-Lawler PC type 2, patients with PC were later found to have a mixed constellation of both types, leading to a classification of PC based on genotype (summary by Sybert, 2010; Eliason et al., 2012; McLean et al., 2011).For a discussion of genetic heterogeneity of pachyonychia congenita, see {167200}. Historical Classification of Pachyonychia CongenitaGorlin et al. (1976) suggested that 2 distinct syndromes are subsumed under the designation pachyonychia congenita. PC type 1, the Jadassohn-Lewandowsky type, shows oral leukokeratosis. PC type 2, the Jackson-Lawler type, has natal teeth and epidermoid cysts (cylindromas), but no oral leukoplakia. Corneal dystrophy may be a feature exclusively of the Jackson-Lawler type.Smith et al. (1998) stated that PC type 2, in contrast to PC type 1, has minimal oral involvement and milder keratoderma, and multiple steatocystomas (OMIM ) is a major clinical feature. Steatocystoma, also known as eruptive vellus cyst, is a cystic hamartoma lined by sebaceous ductal epithelium.On the basis of a study of 13 patients with PC type 1 or type 2, Terrinoni et al. (2001) concluded that the presence of pilosebaceous cysts following puberty is the best indicator of PC type 2; prepubescent patients are more difficult to classify due to the lack of cysts. Natal teeth are indicative of PC type 2, although their absence does not preclude the PC type 2 diagnosis.

Related symptoms:

  • Hyperhidrosis
  • Hyperkeratosis
  • Nail dystrophy
  • Palmoplantar keratoderma
  • Epidermal acanthosis


SOURCES: OMIM MENDELIAN

More info about PACHYONYCHIA CONGENITA 3; PC3

Malignant melanoma is a neoplasm of pigment-producing cells called melanocytes that occurs most often in the skin, but may also occur in the eyes, ears, gastrointestinal tract, leptomeninges, and oral and genital mucous membranes (summary by Habif, 2010).For a discussion of genetic heterogeneity of malignant melanoma, see {155600}.

Related symptoms:

  • Neoplasm
  • Melanoma


SOURCES: OMIM MENDELIAN

More info about MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 5; CMM5

Malignant melanoma is a neoplasm of pigment-producing cells called melanocytes that occurs most often in the skin, but may also occur in the eyes, ears, gastrointestinal tract, leptomeninges, and oral and genital mucous membranes (summary by Habif, 2010).For a discussion of genetic heterogeneity of cutaneous malignant melanoma, see {155600}.

Related symptoms:

  • Neoplasm
  • Melanoma


SOURCES: OMIM MENDELIAN

More info about MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 6; CMM6

Pachyonychia congenita (PC) is an autosomal dominant genodermatosis with the main clinical features of hypertrophic nail dystrophy, painful and highly debilitating plantar keratoderma, oral leukokeratosis, and a variety of epidermal cysts. Although the condition had previously been subdivided clinically into Jadassohn-Lewandowsky PC type 1 and Jackson-Lawler PC type 2, patients with PC were later found to have a mixed constellation of both types, leading to a classification of PC based on genotype (summary by Sybert, 2010; Eliason et al., 2012; McLean et al., 2011). Historical Classification of Pachyonychia CongenitaGorlin et al. (1976) suggested that 2 distinct syndromes are subsumed under the designation pachyonychia congenita. PC type 1, the Jadassohn-Lewandowsky type, shows oral leukokeratosis. PC type 2, the Jackson-Lawler type, has natal teeth and epidermoid cysts (cylindromas), but no oral leukoplakia. Corneal dystrophy may be a feature exclusively of the Jackson-Lawler type.Smith et al. (1998) stated that PC type 2, in contrast to PC type 1, has minimal oral involvement and milder keratoderma, and multiple steatocystomas (OMIM ) is a major clinical feature. Steatocystoma, also known as eruptive vellus cyst, is a cystic hamartoma lined by sebaceous ductal epithelium.On the basis of a study of 13 patients with PC type 1 or type 2, Terrinoni et al. (2001) concluded that the presence of pilosebaceous cysts following puberty is the best indicator of PC type 2; prepubescent patients are more difficult to classify due to the lack of cysts. Natal teeth are indicative of PC type 2, although their absence does not preclude the PC type 2 diagnosis. Genetic Heterogeneity of Pachyonychia CongenitaSee pachyonychia congenita-2 (PC2 ), caused by mutation in the KRT17 gene (OMIM ) on chromosome 17; PC3 (OMIM ), caused by mutation in the KRT6A gene (OMIM ) on chromosome 2; and PC4 (OMIM ), caused by mutation or in the KRT6B gene (OMIM ) on chromosome 12.See {260130} for a possible autosomal recessive form of pachyonychia congenita.

PACHYONYCHIA CONGENITA 1; PC1 Is also known as jadassohn-lewandowsky syndrome, formerly|pachyonychia congenita, jadassohn-lewandowsky type, formerly

Related symptoms:

  • Intellectual disability
  • Respiratory distress
  • Alopecia
  • Hyperhidrosis
  • Hyperkeratosis


SOURCES: OMIM MENDELIAN

More info about PACHYONYCHIA CONGENITA 1; PC1

Top 5 symptoms//phenotypes associated to Melanoma and Hyperhidrosis

Symptoms // Phenotype % cases
Hyperkeratosis Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Neoplasm Uncommon - Between 30% and 50% cases
Nail dystrophy Uncommon - Between 30% and 50% cases
Palmoplantar keratoderma Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Melanoma and Hyperhidrosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Oral leukoplakia Plantar hyperkeratosis Alopecia Squamous cell carcinoma Carcinoma Abnormality of the dentition Erythema

Rare Symptoms - Less than 30% cases

Carious teeth Hamartoma Sparse hair Pain Growth delay Gingivitis Epidermal acanthosis Corneal dystrophy Natal tooth Osteoporosis Palmoplantar hyperkeratosis Thick nail Papule Epidermoid cyst Neoplasm of the skin Osteolysis Abnormality of the fingernails Seizures Hypotrichosis Hypergranulosis Pili torti Ichthyosis Amniotic constriction ring Generalized osteoporosis Subungual hyperkeratosis Ankylosis Trichorrhexis nodosa Hypodontia Anhidrosis Neoplasm of the lung Parakeratosis Curly hair Nail dysplasia Mutism Cutis laxa Corneal opacity Opacification of the corneal stroma Skin ulcer Ectodermal dysplasia Pruritus Inflammatory abnormality of the skin Thickened skin Agenesis of premolar Abnormality of the tongue Abnormal autonomic nervous system physiology Hoarse voice Inability to walk Respiratory distress Chapped lip Onychogryposis of toenails Palmar hyperkeratosis Furrowed tongue Ganglioneuroblastoma Neoplasm of the nervous system Ganglioneuroma Abnormal pupil morphology Neuroblastoma Prolonged QT interval Aganglionic megacolon Alopecia universalis Arrhythmia Anal fissure Skin fissure Circumungual hyperkeratosis Severe short stature Ainhum Foot pain Autoamputation Hidrotic ectodermal dysplasia Palmoplantar hyperhidrosis Abnormality of the gingiva Abnormal oral mucosa morphology Abnormal cornea morphology Joint laxity Severe vision loss Delayed skeletal maturation Periodontitis Cataract Short stature Atrophy of alveolar ridges Halitosis Chronic furunculosis Severe periodontitis Choroid plexus calcification Recurrent cutaneous abscess formation Cigarette-paper scars Liver abscess Premature loss of primary teeth Stomatitis Fragile nails Pustule Visual impairment Premature loss of teeth Sparse body hair Keratitis Scaling skin Reduced number of teeth Recurrent skin infections Hypopigmented skin patches Generalized hirsutism Abnormality of the nail Hypertrichosis Cerebral calcification Arachnodactyly Recurrent respiratory infections Feeding difficulties Frontal bossing Flexion contracture Telangiectasia Sensorineural hearing impairment Hearing impairment Global developmental delay Acrokeratosis Lamellar cataract Acantholysis Concave nasal ridge Poikiloderma Osteosarcoma Alopecia of scalp Striae distensae Basal cell carcinoma Erythroderma Sparse scalp hair Edema Cutaneous photosensitivity Eczema Overgrowth Abnormal blistering of the skin Hypopigmentation of the skin Abnormality of skin pigmentation Leukemia Skin rash Postnatal growth retardation Osteopenia Hypogonadism Prominent forehead Diarrhea Vomiting Follicular hyperkeratosis


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