Obesity, and Palmoplantar keratoderma

Diseases related with Obesity and Palmoplantar keratoderma

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


Top matches:

Medium match PROLIDASE DEFICIENCY


Prolidase deficiency is an inherited disorder of peptide metabolism characterized by severe skin lesions, recurrent infections (involving mainly the skin and respiratory system), dysmorphic facial features, variable cognitive impairment, and splenomegaly.

PROLIDASE DEFICIENCY Is also known as hyperimidodipeptiduria

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PROLIDASE DEFICIENCY

Low match ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE


ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE Is also known as hay-wells syndrome|aec syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Failure to thrive
  • Cleft palate
  • Pain


SOURCES: OMIM MESH MENDELIAN

More info about ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE

Low match SKIN FRAGILITY-WOOLLY HAIR-PALMOPLANTAR KERATODERMA SYNDROME


Skin fragility-woolly hair-palmoplantar keratoderma syndrome is a rare, genetic, ectodermal dysplasia syndrome characterized by persistent skin fragility which manifests with blistering and erosions due to minimal trauma, woolly 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.

SKIN FRAGILITY-WOOLLY HAIR-PALMOPLANTAR KERATODERMA SYNDROME Is also known as skin fragility-woolly hair-palmoplantar hyperkeratosis syndrome

Related symptoms:

  • Failure to thrive
  • Cardiomyopathy
  • Alopecia
  • Dilated cardiomyopathy
  • Nail dystrophy


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SKIN FRAGILITY-WOOLLY HAIR-PALMOPLANTAR KERATODERMA SYNDROME

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Other less relevant matches:

Low match EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1; EBSB1


Epidermolysis bullosa simplex (EBS) is a clinically and genetically heterogeneous group of disorders characterized by recurrent blistering and cleavage within basal keratinocytes. Most forms show autosomal dominant inheritance (see, e.g., {131800}, {131760}, and {131900}), but autosomal recessive inheritance has been described (Fine et al., 2008).

Related symptoms:

  • Neoplasm
  • Hyperkeratosis
  • Abnormality of skin pigmentation
  • Palmoplantar keratoderma
  • Abnormal blistering of the skin


SOURCES: ORPHANET OMIM MENDELIAN

More info about EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1; EBSB1

Low match EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED SEVERE


Epidermolysis bullosa simplex, Dowling-Meara type (EBS-DM) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by the presence of generalized vesicles and small blisters in grouped or arcuate configuration.

EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED SEVERE Is also known as epidermolysis bullosa simplex, herpetiformis|ebs, generalized severe|epidermolysis bullosa simplex, dowling-meara type

Related symptoms:

  • Failure to thrive
  • Feeding difficulties
  • Constipation
  • Nail dystrophy
  • Palmoplantar keratoderma


SOURCES: ORPHANET MENDELIAN

More info about EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED SEVERE

Low match EPIDERMOLYSIS BULLOSA SIMPLEX DUE TO PLAKOPHILIN DEFICIENCY


Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized superficial erosions and less commonly blistering.

EPIDERMOLYSIS BULLOSA SIMPLEX DUE TO PLAKOPHILIN DEFICIENCY Is also known as mcgrath syndrome|ectodermal dysplasia-skin fragility syndrome

Related symptoms:

  • Failure to thrive
  • Immunodeficiency
  • Alopecia
  • Hyperhidrosis
  • Hyperkeratosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about EPIDERMOLYSIS BULLOSA SIMPLEX DUE TO PLAKOPHILIN DEFICIENCY

Low match EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED INTERMEDIATE


Non-Dowling-Meara generalized epidermolysis bullosa simplex, formerly known as epidermolysis bullosa simplex, Köbner type (EBS-K) is a generalized basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by non-herpetiform blisters and erosions arising in particular at sites of friction.

EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED INTERMEDIATE Is also known as generalized ebs, non-dowling-meara type|epidermolysis bullosa simplex, kÖbner type|generalized epidermolysis bullosa simplex, non-dowling-meara type|ebs, generalized intermediate|epidermolysis bullosa simplex, koebner type

Related symptoms:

  • Failure to thrive
  • Muscle weakness
  • Ptosis
  • Respiratory insufficiency
  • Hyperhidrosis


SOURCES: ORPHANET MENDELIAN

More info about EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED INTERMEDIATE

Low match AUTOSOMAL DOMINANT EPIDERMOLYTIC ICHTHYOSIS


Epidermolytic ichthyosis (EI) is a rare keratinopathic ichthyosis (KPI; see this term), that is characterized by a blistering phenotype at birth which progressively becomes hyperkeratotic.

AUTOSOMAL DOMINANT EPIDERMOLYTIC ICHTHYOSIS Is also known as bullous congenital ichthyosiform erythroderma of brock|epidermolytic ichthyosis|bie|bullous congenital ichthyosiform erythroderma|ehk|bullous erythroderma ichthyosiformis congenita of brocq|bcie|bullous ichthyosiform erythroderma|ichthyosis hystrix brocq

Related symptoms:

  • Growth delay
  • Hyperhidrosis
  • Hyperkeratosis
  • Weight loss
  • Erythema


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT EPIDERMOLYTIC ICHTHYOSIS

Low match SELF-IMPROVING COLLODION BABY


Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis (ARCI; see this term) characterized by the presence of a collodion membrane at birth that heals within the first weeks of life.

SELF-IMPROVING COLLODION BABY Is also known as shcb|self-improving congenital ichthyosis|self-healing collodion baby|ichthyosis congenita|desquamation of newborn|sici|collodion fetus|icr2|ichthyosis congenita ii|ichthyosis, lamellar, 1, formerly|li1, formerly|lamellar exfoliation of newborn|collodion

Related symptoms:

  • Failure to thrive
  • Flexion contracture
  • Visual loss
  • Alopecia
  • Hyperhidrosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about SELF-IMPROVING COLLODION BABY

Low match PALMOPLANTAR KERATODERMA-ESOPHAGEAL CARCINOMA SYNDROME


Palmoplantar keratoderma (PPK) is a complex group of hereditary syndromes that have been classified into diffuse, punctate, and focal forms according to the pattern of hyperkeratosis on the palms and soles (Lucker et al., 1994).For a discussion of phenotypic and genetic heterogeneity of palmoplantar keratoderma, see epidermolytic PPK (OMIM ).

PALMOPLANTAR KERATODERMA-ESOPHAGEAL CARCINOMA SYNDROME Is also known as howell-evans syndrome|keratosis palmaris et plantaris with esophageal cancer|palmoplantar hyperkeratosis-esophageal carcinoma syndrome|palmoplantar keratoderma with esophageal cancer|tylosis-oesophageal carcinoma syndrome|bennion-patterson syndrome|kerato

Related symptoms:

  • Neoplasm
  • Hepatomegaly
  • Dysphagia
  • Edema
  • Hernia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about PALMOPLANTAR KERATODERMA-ESOPHAGEAL CARCINOMA SYNDROME

Top 5 symptoms//phenotypes associated to Obesity and Palmoplantar keratoderma

Symptoms // Phenotype % cases
Hyperkeratosis Common - Between 50% and 80% cases
Failure to thrive Common - Between 50% and 80% cases
Abnormal blistering of the skin Uncommon - Between 30% and 50% cases
Alopecia Uncommon - Between 30% and 50% cases
Nail dystrophy Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Obesity and Palmoplantar keratoderma. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Erythema Palmoplantar hyperkeratosis Ectodermal dysplasia Skin vesicle Hyperhidrosis Skin ulcer Fragile skin Erythroderma Abnormality of the nail Milia Dry skin Hypotrichosis Epidermal acanthosis

Rare Symptoms - Less than 30% cases


Oral leukoplakia Scaling skin Anhidrosis Generalized hyperkeratosis Ichthyosis Congenital ichthyosiform erythroderma Poor appetite Abnormality of the fingernails Weight loss Scarring Feeding difficulties Recurrent skin infections Cutaneous photosensitivity Atrophic scars Sepsis Neoplasm Woolly hair Hyperpigmentation of the skin Nail dysplasia Sparse eyelashes Plantar hyperkeratosis Blepharitis Absent eyelashes Inflammatory abnormality of the skin Heat intolerance Dehydration Parakeratosis Hearing impairment Ptosis Pruritus Hepatomegaly Hypergranulosis Acantholysis Diffuse palmoplantar keratoderma Palmoplantar keratosis with erythema and scale Esophageal stricture Abnormality of skin pigmentation Stomach cancer Pyloric stenosis Follicular hyperkeratosis Abnormality of the mediastinum Failure to thrive in infancy Esophagitis Hiatus hernia Abnormality of the mouth Squamous cell carcinoma Oral-pharyngeal dysphagia Poor suck Atypical scarring of skin Dystrophic toenail Clubbing of toes Abnormality of the cardiovascular system Diffuse palmoplantar hyperkeratosis Lacrimal duct atresia Selective tooth agenesis Skin erosion Abnormal large intestine morphology Abnormality of esophagus physiology Orthokeratosis Ankyloblepharon Hyperconvex nail Oval face Patchy alopecia Bilateral choanal atresia Sparse and thin eyebrow 3-4 toe syndactyly Fibrous syngnathia Esophageal carcinoma Vaginal dryness Otitis externa Cardiomyopathy Dilated cardiomyopathy Esophageal neoplasm Ridged nail Dystrophic fingernails Palmar hyperkeratosis Thick nail Congenital bullous ichthyosiform erythroderma Edema Growth delay Dysphagia Confusion Cicatricial lagophthalmos Desquamation of skin soon after birth Eclabion Disseminated intravascular coagulation Subungual hyperkeratosis Hypernatremia Abnormal pattern of respiration Hypernatremic dehydration Conjunctival hamartoma Congenital nonbullous ichthyosiform erythroderma Flexion contracture Visual loss Everted lower lip vermilion Limitation of joint mobility Lack of skin elasticity Eosinophilia Ectropion Subcutaneous hemorrhage Hernia Absent eyebrow Postural instability Aplasia/Hypoplasia of the nails Thickened skin Constipation Hypopigmentation of the skin Gastrointestinal hemorrhage Squamous cell carcinoma of the skin Oral mucosal blisters Immunodeficiency Ascites Chronic diarrhea Conical tooth Nausea and vomiting Carcinoma Gastroesophageal reflux Epiphora Abnormal eyebrow morphology Furrowed tongue Muscle weakness Respiratory insufficiency Abnormality of dental enamel Ophthalmoparesis Fatigable weakness Intellectual disability Pili torti Low anterior hairline Arachnodactyly Hirsutism Asthma Convex nasal ridge Hepatitis Low posterior hairline Depressed nasal ridge Thin skin Abnormal lung morphology Abnormality of retinal pigmentation Lymphedema Bilateral single transverse palmar creases Carious teeth Recurrent pneumonia Generalized hirsutism Reduced bone mineral density Systemic lupus erythematosus Psoriasiform dermatitis Osteomyelitis Increased antibody level in blood Petechiae Elevated erythrocyte sedimentation rate Abnormality of the hip bone Aplasia/Hypoplasia of the skin Abnormality of the immune system Genu valgum Papule Hypoplasia of the zygomatic bone Intellectual disability, mild Hypertelorism Micrognathia Abnormal facial shape Anemia High palate Delayed speech and language development Visual impairment Depressed nasal bridge Downslanted palpebral fissures Intellectual disability, severe Vomiting Diarrhea Splenomegaly Skin rash Short nose Malar flattening Recurrent infections Abnormality of metabolism/homeostasis Thrombocytopenia Recurrent respiratory infections Prominent forehead Proptosis High forehead Hepatosplenomegaly Elevated hepatic transaminase Prolonged neonatal jaundice Chronic lung disease Trismus Widely spaced teeth Microdontia Small nail Fine hair Split hand Recurrent otitis media Choanal atresia Hypohidrosis Sinusitis Hoarse voice Increased body weight Conjunctivitis Atresia of the external auditory canal Hypodontia Brittle hair Hammertoe 2-3 toe syndactyly Global developmental delay Anonychia Supernumerary nipple Agenesis of permanent teeth Sparse body hair Keratoconjunctivitis sicca Ectrodactyly Pustule Chronic sinusitis Otitis media Hypoplasia of the maxilla Concave nasal ridge Abnormality of the dentition White forelock Abnormality of the middle ear Poliosis Facial hirsutism Crusting erythematous dermatitis Diffuse telangiectasia Recurrent cystitis Short stature Cleft palate Pain Wide nasal bridge Ventricular septal defect Syndactyly Cleft upper lip Hypospadias Patent ductus arteriosus Micropenis Narrow mouth Conductive hearing impairment Abnormality of the nervous system Cleft lip Camptodactyly Sparse hair Microtia Toe syndactyly Oral cleft Esophageal leukoplakia



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