Immunodeficiency, and Palmoplantar keratoderma

Diseases related with Immunodeficiency and Palmoplantar keratoderma

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

Top matches:

WOOLLY HAIR, AUTOSOMAL RECESSIVE 3; ARWH3 Is also known as woolly hair, autosomal recessive 3, with hypotrichosis

Related symptoms:

  • Intellectual disability
  • Diarrhea
  • Immunodeficiency
  • Hyperhidrosis
  • Rigidity


SOURCES: OMIM MENDELIAN

More info about WOOLLY HAIR, AUTOSOMAL RECESSIVE 3; ARWH3

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

Medium match SÉZARY SYNDROME

Sézary syndrome (SS) is an aggressive form of cutaneous T-cell lymphoma characterized by a triad of erythroderma, lymphadenopathy and circulating atypical lymphocytes (Sézary cells).

SÉZARY SYNDROME Is also known as sÉzary lymphoma

Related symptoms:

  • Neoplasm
  • Abnormal facial shape
  • Peripheral neuropathy
  • Hepatomegaly
  • Fever


SOURCES: MESH ORPHANET MENDELIAN

More info about SÉZARY SYNDROME

Other less relevant matches:

Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer.

DYSKERATOSIS CONGENITA Is also known as dkc|dc|dyskeratosis congenita, scoggins type|zinsser-engman-cole syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DYSKERATOSIS CONGENITA

Ichthyosis follicularis - alopecia - photophobia (IFAP) is a rare genetic disorder characterized by the triad of ichthyosis follicularis, alopecia, and photophobia from birth.

ICHTHYOSIS FOLLICULARIS-ALOPECIA-PHOTOPHOBIA SYNDROME Is also known as ichthyosis follicularis-atrichia-photophobia syndrome|ifap syndrome|ichthyosis follicularis, atrichia, and photophobia with or without brain anomalies, retardation, ectodermal dysplasia, skeletal malformations, hirschsprung disease, ear/eye anomalies, cle

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about ICHTHYOSIS FOLLICULARIS-ALOPECIA-PHOTOPHOBIA SYNDROME

Medium match COWDEN SYNDROME

Cowden syndrome (CS) is a difficult to recognize, under-diagnosed genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS; see this term) group.

COWDEN SYNDROME Is also known as bzs|cowden disease|bbrs|macrocephaly, multiple lipomas, and hemangiomata|pten hamartoma tumor syndrome with granular cell tumor|bannayan-zonana syndrome|macrocephaly, pseudopapilledema, and multiple hemangiomata|cs|cd|mham|pten hamartoma tumor syndrome|ri

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about COWDEN SYNDROME

Chronic mucocutaneous candidosis (CMC) refers to a group of heterogenous disorders characterized by persistent, debilitating and/or recurrent infections of the skin, nails, and mucus membranes, mainly with the fungal pathogen Candida albicans.

CHRONIC MUCOCUTANEOUS CANDIDIASIS Is also known as card9 immunodeficiency|candidiasis, familial chronic mucocutaneous, autosomal recessive|cmc

Related symptoms:

  • Seizures
  • Fever
  • Behavioral abnormality
  • Immunodeficiency
  • Headache


SOURCES: OMIM ORPHANET MENDELIAN

More info about CHRONIC MUCOCUTANEOUS CANDIDIASIS

Low match COG6-CGD

CDG2L is an autosomal recessive multisystem disorder apparent from birth or early infancy. It is characterized by poor growth, gastrointestinal and liver abnormalities, delayed psychomotor development, hypotonia, recurrent infections, hematologic abnormalities, increased bleeding tendency, and hyperhidrosis or hyperkeratosis. More variable features include nonspecific dysmorphic facial features and cardiac septal defects. The disorder often results in death in infancy or the first years of life (summary by Rymen et al., 2015).For a general discussion of CDGs, see CDG1A (OMIM ) and CDG2A (OMIM ).

COG6-CGD Is also known as congenital disorder of glycosylation type 2l|cdg syndrome type iil|cdg-iil|cdg2l|congenital disorder of glycosylation type iil|cdgiil|cdg iil

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about COG6-CGD

Low match NEVUS OF ITO

Nevus of Ito is a benign dermal melanocytosis occurring most frequently in the Asian populations and characterized by unilateral, asymptomatic, blue, gray or brown skin pigmentation within the acromioclavicular and upper chest area (involving the side of the neck, the supraclavicular and scapular areas, and the shoulder region). It is usually diagnosed in early infancy and in early adolescence. Nevus of Ito may progressively enlarge and darken in color (particularly with puberty) and its appearance usually remains stable once adulthood is reached. Spontaneous regression does not occur. Malignant melanoma has rarely been reported within a nevus of Ito. It shares the clinical features of nevus of Ota, except its anatomic location and in rare occasions, mayoccur together with the latter.

NEVUS OF ITO Is also known as incontinentia pigmenti, familial male-lethal type|nevus fuscocaeruleus acromiodeltoideus|ip2, formerly|bloch-sulzberger syndrome|incontinentia pigmenti, type ii, formerly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Neoplasm


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEVUS OF ITO

Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder in which oculocutaneous albinism, bleeding, and lysosomal ceroid storage result from defects of multiple cytoplasmic organelles: melanosomes, platelet-dense granules, and lysosomes (Oh et al., 1998). Genetic Heterogeneity of Hermansky-Pudlak SyndromeHPS2 (OMIM ) is caused by mutation in the AP3B1 gene (OMIM ) on chromosome 5q14. HPS3 (OMIM ) is caused by mutation in the HSP3 gene (OMIM ) on chromosome 3q24. HPS4 (OMIM ) is caused by mutation in the HSP4 gene (OMIM ) on chromosome 22q12. HPS5 (OMIM ) is caused by mutation in the HPS5 gene (OMIM ) on chromosome 11p14. HPS6 (OMIM ) is caused by mutation in the HPS6 gene (OMIM ) on chromosome 10q24. HPS7 (OMIM ) is caused by mutation in the DTNBP1 gene (OMIM ) on chromosome 6p22. HPS8 (OMIM ) is caused by mutation in the BLOC1S3 gene (OMIM ) on chromosome 19q13. HPS9 (OMIM ) is caused by mutation in the PLDN gene (OMIM ) on chromosome 15q21. HPS10 (OMIM ) is caused by mutation in the AP3D1 gene (OMIM ) on chromosome 19p13.

HERMANSKY-PUDLAK SYNDROME 1; HPS1 Is also known as delta storage pool disease|albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells

Related symptoms:

  • Nystagmus
  • Strabismus
  • Cataract
  • Visual impairment
  • Myopia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HERMANSKY-PUDLAK SYNDROME 1; HPS1

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

Symptoms // Phenotype % cases
Hyperkeratosis Common - Between 50% and 80% cases
Recurrent infections Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Alopecia Hyperhidrosis Chronic diarrhea Cataract Hypotrichosis Papule Malabsorption Neoplasm Erythema Microcephaly Nail dystrophy Short stature Global developmental delay Recurrent respiratory infections Fever Skin rash Lymphoma Hearing impairment Neoplasm of the skin Myopia Intrauterine growth retardation Lymphopenia Scoliosis Growth delay Hepatomegaly Nail dysplasia Epidermal acanthosis Abnormality of dental enamel Sparse hair Diarrhea Pruritus Dry skin Ectodermal dysplasia Abnormal blistering of the skin Abnormality of the nail Skin ulcer Blepharitis

Rare Symptoms - Less than 30% cases

Cellular immunodeficiency Generalized hypotonia Headache Hypopigmentation of the skin Decreased antibody level in blood Nevus Nail pits Squamous cell carcinoma of the skin Abnormality of the vasculature Scarring Postaxial polydactyly Abnormal eyelash morphology Macule Eczema Pulmonary fibrosis Hypopigmented skin patches Abnormal intestine morphology Abnormality of the fingernails Melanoma Hyperpigmentation of the skin Ridged nail Abnormality of the hair Abnormality of temperature regulation Hemivertebrae Inflammation of the large intestine Keratitis Photophobia Uveitis Polydactyly Cerebral cortical atrophy Cheilitis Strabismus Dilatation Pancytopenia Microphthalmia Kyphosis Hypoplasia of the corpus callosum Ventriculomegaly Frontal bossing Hypohidrosis Nystagmus Astigmatism Abnormal bleeding Abnormality of the kidney Visual impairment Melanocytic nevus Weight loss Furrowed tongue Abnormal facial shape Erythroderma Tremor Cerebellar hypoplasia Splenomegaly Thrombocytopenia Palmoplantar hyperkeratosis Leukemia Abnormality of the dentition Hepatosplenomegaly Anemia Ataxia Lymphadenopathy Thickened skin Lichenification Scaling skin Skeletal muscle atrophy Fine hair Absent eyelashes Hypoplasia of the maxilla Epiphora Hypodontia Cirrhosis Skin vesicle Abnormality of skin pigmentation Woolly hair Abnormal eyebrow morphology Specific learning disability Cutis marmorata telangiectatica congenita Recurrent fungal infections Dysplastic gangliocytoma of the cerebellum Trichilemmoma Recurrent urinary tract infections Enlarged cerebellum Ulcerative colitis Abnormality of the immune system Chronic mucocutaneous candidiasis Fibroadenoma of the breast Neoplasm of the thyroid gland Transitional cell carcinoma of the bladder Abnormality of vision Acrokeratosis Mucosal telangiectasiae Abnormal vagina morphology Abnormality of the skin Hematuria Lobular carcinoma in situ Cough Feeding difficulties in infancy Abnormality of blood and blood-forming tissues Hemoptysis Abnormality of the eye Behavioral abnormality Multiple trichilemmomata Conjunctival hamartoma Merkel cell skin cancer Hepatitis Meningitis Abnormal toenail morphology Ductal carcinoma in situ Inflammatory abnormality of the skin Abnormality of the mouth Follicular thyroid carcinoma Pseudopapilledema Scaphocephaly Abnormality of the uterus Arteriovenous malformation Hydrocele testis Meningioma Partial albinism Megalencephaly Skin tags Prolactin excess Papilledema Lipoma Hashimoto thyroiditis Ovarian cyst Renal cell carcinoma Hodgkin lymphoma Thyroiditis Ovarian neoplasm Menometrorrhagia Hyperthyroidism Hamartoma Acute myeloid leukemia Multiple cafe-au-lait spots Cellulitis Cystic hygroma Astrocytoma Intestinal polyposis Progressive macrocephaly Subcutaneous lipoma Colorectal polyposis Abnormal thrombocyte morphology Endometrial carcinoma Onychomycosis Varicocele Thyroid adenoma Intestinal polyp Ovarian carcinoma Angioid streaks of the fundus Abnormality of the penis Colonic diverticula Bone cyst Adenoma sebaceum Decreased proportion of CD4-positive T cells Neoplasm of the central nervous system Generalized hyperkeratosis Fibroma Hamartomatous polyposis Impaired platelet aggregation Papilloma Enlarged polycystic ovaries Cavernous hemangioma Long penis Abnormal endocardium morphology Long eyelashes Abnormal lip morphology Supernumerary nipple Generalized osteosclerosis Basal cell carcinoma Thick nail Conical tooth Anodontia Hypoplasia of the fovea Pustule Hypoplastic nipples Hyperostosis Breast hypoplasia Coarse hair Eosinophilia Increased bone mineral density Lymphedema Tetraplegia Restrictive ventilatory defect Delayed eruption of teeth Retinal detachment Pallor Albinism Breast aplasia Visual loss Renal insufficiency Abnormal lung morphology Epistaxis Anorexia Amblyopia Gastrointestinal hemorrhage Neutropenia Bruising susceptibility Dyspnea Abdominal pain Blindness Supernumerary ribs Acanthosis nigricans Cardiomyopathy Fatigue Atrophic, patchy alopecia Retinal vascular proliferation Hyperpigmented streaks Retinal hemorrhage Hypohidrotic ectodermal dysplasia Scarring alopecia of scalp Kyphoscoliosis Prolonged bleeding time Dyspareunia Neonatal hypotonia Hip dysplasia Focal-onset seizure Hematochezia Hepatic steatosis Arthrogryposis multiplex congenita Abnormal cardiac septum morphology Abnormality of the liver Muscular hypotonia of the trunk Aggressive behavior Elevated hepatic transaminase Ocular albinism Retrognathia Cerebral atrophy Abnormality of the optic nerve Vomiting Cerebellar atrophy Talipes equinovarus Epicanthus Chronic oral candidiasis Broad nail Decreased fetal movement Cholestasis Colitis Abnormal T cell morphology Freckling Optic atrophy Multiple lipomas Hypopigmentation of hair Iris hypopigmentation Severe vision loss Spasticity Gingival bleeding Type II transferrin isoform profile Gastrointestinal inflammation Hyperbilirubinemia Macrovesicular hepatic steatosis Abnormality of visual evoked potentials Micronodular cirrhosis Impaired T cell function Proximal tubulopathy Abnormal cortical gyration Neurodevelopmental delay Combined immunodeficiency Loss of consciousness Polyhydramnios Thin fingernail Abnormality of the thyroid gland Absent lacrimal punctum Inguinal hernia Hernia Intellectual disability, severe Respiratory distress Feeding difficulties Flexion contracture Cryptorchidism Cleft palate Muscular hypotonia Esophageal stenosis Agenesis of corpus callosum Palmar hyperkeratosis Displacement of the external urethral meatus Congenital bullous ichthyosiform erythroderma Anorectal anomaly Reticular hyperpigmentation Rough bone trabeculation Porokeratosis Aplastic/hypoplastic toenail Interstitial pneumonitis Delayed skeletal maturation Severe short stature Urethral stenosis Platyspondyly Omphalocele Choanal atresia Abnormality of the ribs Oligohydramnios Postaxial hand polydactyly Brain atrophy Pulmonary hypoplasia Ichthyosis Talipes Hip dislocation Dementia Corneal opacity Camptodactyly of finger Respiratory tract infection Developmental regression Camptodactyly Mental deterioration Hydronephrosis Umbilical hernia Macrotia Abnormality of neutrophils Abnormality of the pharynx Renal dysplasia Irregular hyperpigmentation Carious teeth Diabetes mellitus Osteoporosis Cutaneous T-cell lymphoma Abnormal immunoglobulin level Abnormal lymphocyte morphology T-cell lymphoma Abnormality of the pleura Gangrene Ectropion Recurrent fractures Abnormality of the face Edema Peripheral neuropathy Fragile skin Trichorrhexis nodosa Curly hair Sparse eyelashes Sparse scalp hair Rigidity Hepatic failure Cerebral calcification Testicular atrophy Aseptic necrosis Abnormality of female internal genitalia Aplastic anemia Oral leukoplakia Abnormality of the testis White hair Periodontitis Taurodontia Neoplasm of the pancreas Premature loss of teeth Telangiectasia of the skin Hepatic fibrosis Aplasia/Hypoplasia of the skin Neurofibromas Hypermelanotic macule Abnormality of coagulation Premature graying of hair Tracheoesophageal fistula Myelodysplasia Dermal atrophy Bone marrow hypocellularity Aganglionic megacolon Hypoplasia of dental enamel Cutis marmorata Hydrocephalus Carcinoma Proximal muscle weakness Hypothyroidism Narrow mouth Autism Pectus excavatum Intellectual disability, mild Myopathy Atrial septal defect Downslanted palpebral fissures Nausea and vomiting Macrocephaly Brachydactyly Motor delay Delayed speech and language development High palate Cognitive impairment Low-set ears Pain Muscle weakness Intellectual disability, moderate Joint hypermobility Hypertelorism Cranial nerve paralysis Hand polydactyly Intracranial hemorrhage Dysdiadochokinesis Incoordination Goiter Breast carcinoma Increased intracranial pressure Hemangioma Drooling Gynecomastia Polymicrogyria Cafe-au-lait spot Exotropia Telangiectasia Subcutaneous nodule Broad thumb Intention tremor Overgrowth Macroglossia Abnormal cerebellum morphology Micrognathia Unilateral chest hypoplasia Abnormal vertebral morphology Intestinal obstruction Oligodactyly Ectrodactyly Atonic seizures Congenital ichthyosiform erythroderma Abnormality of the vertebral column Absent septum pellucidum Mixed hearing impairment Hydroureter Absent eyebrow Bifid scrotum Parakeratosis Unilateral renal agenesis Psoriasiform dermatitis Urticaria Abnormality of the hand Plagiocephaly Opacification of the corneal stroma Conjunctivitis Recurrent bacterial infections Multicystic kidney dysplasia Submucous cleft hard palate Alopecia of scalp Ichthyosis follicularis Corneal scarring Abnormal pelvis bone morphology Scleritis Hypoplasia of the bladder Cerebral cortical hemiatrophy Paronychia Episcleritis Hyperconvex fingernails Abnormal nasolacrimal system morphology Subcortical cerebral atrophy Abnormality of the upper urinary tract Abnormal eyelid morphology Alopecia universalis Oxycephaly Thin eyebrow Alopecia totalis Olivopontocerebellar atrophy Recurrent corneal erosions Hypoplastic fingernail Heat intolerance Follicular hyperkeratosis Corneal erosion Freckles in sun-exposed areas


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