Autoimmunity, and Hypopigmentation of the skin

Diseases related with Autoimmunity and Hypopigmentation of the skin

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


Top matches:

Low match CHILBLAIN LUPUS


Chilblain lupus is a cutaneous form of systemic lupus erythematosus (SLE ) characterized by the appearance of painful bluish-red papular or nodular lesions of the skin in acral locations (including the dorsal aspects of fingers and toes, heels, nose, cheeks, ears, and, in some cases, knees) precipitated by cold and wet exposure (summary by Lee-Kirsch et al., 2006). Genetic Heterogeneity of Chilblain LupusSee also CHBL2 (OMIM ), caused by mutation in the SAMHD1 gene (OMIM ) on chromosome 20q11.Mutations in the TREX1 and SAMHD1 genes also cause Aicardi-Goutieres syndrome (AGS1, {225750} and AGS5, {612952}, respectively).

Related symptoms:

  • Immunodeficiency
  • Recurrent infections
  • Arthralgia
  • Abnormality of skin pigmentation
  • Hypopigmentation of the skin


SOURCES: ORPHANET OMIM MENDELIAN

More info about CHILBLAIN LUPUS

Low match XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC


Xeroderma pigmentosum is a genetically heterogeneous condition characterized by increased sensitivity to ultraviolet (UV) irradiation and increased risk of skin cancer resulting from a defect in DNA repair. XPC is the most common form of XP in the white population, accounting for over a third of all cases in this group (review by Li et al., 1993).For a general discussion of xeroderma pigmentosum, see XPA (OMIM ).

XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC Is also known as xp, group c|xp3|xpcc|xeroderma pigmentosum iii

Related symptoms:

  • Neoplasm
  • Hyperactivity
  • Photophobia
  • Carcinoma
  • Abnormality of the nervous system


SOURCES: OMIM MESH MENDELIAN

More info about XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC

Low match LIMITED CUTANEOUS SYSTEMIC SCLEROSIS


Limited cutaneous systemic sclerosis (lcSSc) is a subtype of systemic sclerosis (SSc; see this term) characterized by the association of Raynaud's phenomenon with skin fibrosis limited to the hands, face, feet and forearms.

LIMITED CUTANEOUS SYSTEMIC SCLEROSIS Is also known as limited cutaneous systemic scleroderma

Related symptoms:

  • Dysphagia
  • Gastroesophageal reflux
  • Autoimmunity
  • Nausea and vomiting
  • Abnormality of skin pigmentation


SOURCES: ORPHANET MENDELIAN

More info about LIMITED CUTANEOUS SYSTEMIC SCLEROSIS

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Other less relevant matches:

Low match SEA-BLUE HISTIOCYTOSIS


A congenital disease caused by an inborn error involving APOLIPOPROTEINS E leading to abnormal LIPID METABOLISM and the accumulation of GLYCOSPHINGOLIPIDS, particularly SPHINGOMYELINS in the HISTIOCYTES. This disorder is characterized by SPLENOMEGALY and the sea-blue histiocytes in the spleen and bone marrow after May Grunwald staining.

SEA-BLUE HISTIOCYTOSIS Is also known as sea-blue histiocytosis|histiocytosis, sea-blue

Related symptoms:

  • Seizures
  • Ataxia
  • Peripheral neuropathy
  • Hepatomegaly
  • Gait disturbance


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SEA-BLUE HISTIOCYTOSIS

Low match MULTIPLE ENDOCRINE NEOPLASIA TYPE 4


Multiple endocrine neoplasia type 4 (MEN4) is a very rare form of MEN (see this term), an inherited cancer syndrome, characterized by parathyroid and anterior pituitary tumors, possibly associated with adrenal, renal, and reproductive organ tumors.

MULTIPLE ENDOCRINE NEOPLASIA TYPE 4 Is also known as men4

Related symptoms:

  • Neoplasm
  • Hypertension
  • Diarrhea
  • Diabetes mellitus
  • Hypothyroidism


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about MULTIPLE ENDOCRINE NEOPLASIA TYPE 4

Low match SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION; SPENCDI


Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) is an immunoosseous dysplasia combining the typical metaphyseal and vertebral bone lesions of spondyloenchondrodysplasia (SPENCD) with immune dysfunction and neurologic involvement. The skeletal dysplasia is characterized by radiolucent and irregular spondylar and metaphyseal lesions that represent islands of chondroid tissue within bone. The vertebral bodies show dorsally accentuated platyspondyly with disturbance of ossification. Clinical abnormalities such as short stature, rhizomelic micromelia, increased lumbar lordosis, barrel chest, facial anomalies, and clumsy movements may be present (Menger et al., 1989). Central nervous system involvement includes spasticity, mental retardation, and cerebral calcifications, and immune dysregulation ranges from autoimmunity to immunodeficiency. Neurologic and autoimmune manifestations have been observed in different combinations within a single family, suggesting that this disorder may be defined by specific radiographic features but has remarkably pleiotropic manifestations (Renella et al., 2006). Briggs et al. (2016) also noted variability in skeletal, neurologic, and immune phenotypes, which was sometimes marked between members of the same family. Classification of the EnchondromatosesIn their classification of the enchondromatoses, Spranger et al. (1978) called Ollier disease and Maffucci syndrome types I and II enchondromatosis, respectively; metachondromatosis (OMIM ), type III; and spondyloenchondrodysplasia (SPENCD), also called spondyloenchondromatosis, type IV; enchondromatosis with irregular vertebral lesions, type V; and generalized enchondromatosis, type VI. Halal and Azouz (1991) added 3 tentative categories to the 6 in the classification of Spranger et al. (1978).Pansuriya et al. (2010) suggested a new classification of enchondromatosis (multiple enchondromas).

SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION; SPENCDI Is also known as spencd|combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia|roifman immunoskeletal syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Spasticity
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION; SPENCDI

Low match X-LINKED AGAMMAGLOBULINEMIA


X-linked agammaglobulinemia (XLA) is a clinically variable form of isolated agammaglobulinemia, an inherited immunodeficiency disorder (see this term), and is characterized in affected males by recurrent bacterial infections during infancy.

X-LINKED AGAMMAGLOBULINEMIA Is also known as imd1|bruton-type agammaglobulinemia|bruton type agammaglobulinemia|agammaglobulinemia, x-linked, type 1|immunodeficiency 1|btk-deficiency|agmx1

Related symptoms:

  • Short stature
  • Hearing impairment
  • Ataxia
  • Neoplasm
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED AGAMMAGLOBULINEMIA

Low match AUTOIMMUNE POLYENDOCRINOPATHY TYPE 1


Autoimmune polyendocrinopathy type 1, or APECED syndrome, is a genetic disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure.

AUTOIMMUNE POLYENDOCRINOPATHY TYPE 1 Is also known as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy|apeced|autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome|autoimmune hypoparathyroidism-chronic candidiasis-addison disease syndrome|apeced syndrome|polyglandular autoimmu

Related symptoms:

  • Seizures
  • Abnormal facial shape
  • Cataract
  • Anemia
  • Visual impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOIMMUNE POLYENDOCRINOPATHY TYPE 1

Low match AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 1; AIS1


AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 1; AIS1 Is also known as vamas2|autoimmune disease susceptibility locus, chromosome 1p-related|vitiligo-associated multiple autoimmune disease susceptibility 2

Related symptoms:

  • Autoimmunity
  • Thyroiditis
  • Hashimoto thyroiditis
  • Vitiligo


SOURCES: OMIM MENDELIAN

More info about AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 1; AIS1

Low match VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1; VAMAS1


Generalized vitiligo is an autoimmune disease characterized by melanocyte loss, which results in patchy depigmentation of skin and hair, and is associated with an elevated risk of other autoimmune diseases. It is a genetically complex disorder involving multiple susceptibility genes and unknown environmental triggers. Patients with generalized vitiligo have elevated frequencies of other autoimmune diseases, suggesting that these diseases involve shared genetic components (summary by Jin et al., 2010). Genetic Heterogeneity of Vitiligo-Associated Multiple Autoimmune Disease SusceptibilityAdditional forms of vitiligo-associated multiple autoimmune disease susceptibility have been mapped to chromosomes 1p31 (VAMAS2, {607836}, associated with mutation in the FOXD3 gene, {611539}), 7 (VAMAS3 ), 8 (VAMAS4 ), 4 (VAMAS5 ), and 6p21.3 (VAMAS6 ).

VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1; VAMAS1 Is also known as vtlg|vitiligo|slev1|systemic lupus erythematosus, vitiligo-related

Related symptoms:

  • Anemia
  • Alopecia
  • Autoimmunity
  • Nevus
  • Systemic lupus erythematosus


SOURCES: OMIM MENDELIAN

More info about VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1; VAMAS1

Top 5 symptoms//phenotypes associated to Autoimmunity and Hypopigmentation of the skin

Symptoms // Phenotype % cases
Diarrhea Uncommon - Between 30% and 50% cases
Anemia Uncommon - Between 30% and 50% cases
Systemic lupus erythematosus Uncommon - Between 30% and 50% cases
Vitiligo Uncommon - Between 30% and 50% cases
Immunodeficiency Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Autoimmunity and Hypopigmentation of the skin. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Thrombocytopenia Hepatitis Retinopathy Alopecia Hypopigmented skin patches Recurrent infections Neoplasm Skin ulcer Hypothyroidism Thyroiditis

Rare Symptoms - Less than 30% cases


Arthritis Seizures Thymoma Ataxia Pneumonia Increased circulating cortisol level Dementia Hashimoto thyroiditis Purpura Short stature Diabetes mellitus Autoimmune thrombocytopenia Rod-cone dystrophy Skin rash Malabsorption Hypocalcemia Otitis media Sinusitis Chronic diarrhea Decreased antibody level in blood Peptic ulcer Rheumatoid arthritis Abnormality of skin pigmentation Alopecia areata Dermal atrophy Photophobia Cerebral calcification Carcinoma Cutaneous photosensitivity Abnormal lung morphology Raynaud phenomenon Recurrent bacterial infections Nausea and vomiting Arthralgia Encephalitis Telangiectasia Conjunctivitis Antinuclear antibody positivity Recurrent urinary tract infections Recurrent sinusitis Madelung deformity Lymphopenia Meningitis Sepsis Autoimmune hemolytic anemia Recurrent skin infections Chronic otitis media Osteomyelitis Cellulitis Bronchitis Glossoptosis Agammaglobulinemia Recurrent pneumonia Weight loss Neutropenia Immune dysregulation Progressive spastic quadriplegia Metaphyseal sclerosis Tubulointerstitial fibrosis Arthralgia/arthritis Cellular immunodeficiency Hypopigmented skin patches on arms Hearing impairment Cor pulmonale Spondylometaphyseal dysplasia Sensorineural hearing impairment Delayed speech and language development Irregular vertebral endplates Juvenile rheumatoid arthritis Fever Fatigue Barrel-shaped chest Myopathy Dilatation Depressivity Encephalopathy Narrow nose Decrease in T cell count Failure to thrive Cataract Myelopathy Alopecia totalis Adrenal insufficiency Abnormality of the thyroid gland Macular atrophy Metaphyseal dysplasia Primary adrenal insufficiency Hypoparathyroidism Chronic sinusitis Adrenal hyperplasia Asplenia Chronic mucocutaneous candidiasis Abnormality of the cerebral vasculature Achalasia Tetany Decreased circulating aldosterone level Constriction of peripheral visual field Alopecia universalis Central diabetes insipidus Gastritis Keratoconjunctivitis Chronic hepatitis Female hypogonadism Abnormality of calcium-phosphate metabolism Chronic atrophic gastritis Chronic active hepatitis Salt craving Decreased circulating parathyroid hormone level Patchy atrophy of the retinal pigment epithelium Nevus Dysgammaglobulinemia Diabetes insipidus Cholelithiasis Abnormality of the lymphatic system Constipation Pyoderma Recurrent cutaneous abscess formation Septic arthritis Abnormality of the tonsils Epididymitis Prostatitis Lymph node hypoplasia Enteroviral dermatomyositis syndrome Enteroviral hepatitis Abnormal facial shape Scleroderma Visual impairment Vomiting Hypogonadism Opacification of the corneal stroma Reduced visual acuity Rigidity Pallor Abnormality of the liver Hypotrichosis Nausea Muscle cramps Hypotension Pigmentary retinopathy Dehydration Hypoplasia of dental enamel Hypergonadotropic hypogonadism Type I diabetes mellitus Abnormality of the fingernails Basal ganglia calcification Platyspondyly Hypermelanotic macule Histiocytosis Hepatosplenomegaly Abnormality of the eye Leukemia Cirrhosis Abnormal bleeding Hypertriglyceridemia Subcutaneous nodule Hyperpigmentation of the skin Cafe-au-lait spot Petechiae Blepharitis Pulmonary infiltrates Mucopolysacchariduria Edema Chronic myelogenous leukemia Mediastinal lymphadenopathy Absent axillary hair Elevated serum acid phosphatase Sea-blue histiocytosis Hypertension Erythema Type II diabetes mellitus Abnormality of the urinary system Hypercalcemia Hyperparathyroidism Growth hormone excess Splenomegaly Gait disturbance Esophagitis Squamous cell carcinoma of the skin Abnormality of the nail Hyperactivity Abnormality of the nervous system Neoplasm of the skin Melanoma Ectropion Keratitis Squamous cell carcinoma Basal cell carcinoma Freckling Poikiloderma Entropion Cutaneous melanoma Hepatomegaly Defective DNA repair after ultraviolet radiation damage Dysphagia Gastroesophageal reflux Abnormality of the skin Pulmonary arterial hypertension Joint contracture of the hand Pulmonary fibrosis Telangiectasia of the skin Mucosal telangiectasiae Contractures involving the joints of the feet Narrow foramen obturatorium Peripheral neuropathy Episodic abdominal pain Pituitary adenoma Restrictive ventilatory defect Respiratory tract infection Abnormality of pancreas physiology Intellectual disability Global developmental delay Spasticity Low-set ears Abnormality of the skeletal system Intellectual disability, mild Recurrent respiratory infections Severe short stature Kyphoscoliosis Skeletal dysplasia Hyperlordosis Abnormality of the cerebral white matter Cervix cancer Micromelia Lymphadenopathy Hemolytic anemia Tetraplegia Spastic tetraplegia Lumbar hyperlordosis Recurrent otitis media Rhizomelia Nephritis Metaphyseal irregularity Spastic diplegia Combined immunodeficiency Confetti-like hypopigmented macules Increased glucagon level Hyperinsulinemic hypoglycemia Extrahepatic cholestasis Abnormality of the endocrine system Neoplasm of the endocrine system Elevated circulating parathyroid hormone level Parathyroid adenoma Thyroid carcinoma Primary hyperparathyroidism Carcinoid tumor Parathyroid hyperplasia Adrenocortical adenoma Papillary thyroid carcinoma Pituitary prolactin cell adenoma Testicular neoplasm Subcutaneous lipoma Pulmonary carcinoid tumor Fasting hyperinsulinemia Neuroendocrine neoplasm Thyroid adenoma Zollinger-Ellison syndrome Increased urinary cortisol level Pituitary growth hormone cell adenoma Pituitary corticotropic cell adenoma Parathyroid carcinoma Renal angiomyolipoma Pituitary null cell adenoma Angiofibromas Insulinoma Spotty hyperpigmentation



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Abnormality of the skeletal system and Respiratory distress, related diseases and genetic alterations

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