Carcinoma, and Eczema

Diseases related with Carcinoma and Eczema

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


Top matches:

High match GRANULOMATOUS DISEASE, CHRONIC, X-LINKED; CDGX


Chronic granulomatous disease is a genetically heterogeneous immunodeficiency disorder resulting from an inability of phagocytes to kill microbes that they have ingested. This impairment in killing is caused by any of several defects in the phagocyte NADPH oxidase (phox) complex, which generates the microbicidal 'respiratory burst' (reviewed by Dinauer et al., 2001 and Johnston, 2001). Genetic Heterogeneity of Chronic Granulomatous DiseaseChronic granulomatous disease can be caused by mutations in any 1 of 5 genes encoding structural or regulatory subunits of the phagocyte NADPH oxidase complex. See also autosomal recessive cytochrome b-negative CGD (OMIM ), caused by mutation in the CYBA gene (OMIM ); autosomal recessive cytochrome b-positive CGD type I (OMIM ), caused by mutation in the NCF1 gene (OMIM ); autosomal recessive cytochrome b-positive CGD II (OMIM ), caused by mutation in the NCF2 gene (OMIM ); and autosomal recessive cytochrome b-positive CGD type III (OMIM ), caused by mutation in the NCF4 gene (OMIM ).A similar syndrome, termed neutrophil immunodeficiency syndrome (OMIM ), is caused by mutation in another protein involved in the NADPH oxidase complex, RAC2 (OMIM ).

GRANULOMATOUS DISEASE, CHRONIC, X-LINKED; CDGX Is also known as cytochrome b-negative granulomatous disease, chronic, x-linked|cgd|chronic granulomatous disease, x-linked

Related symptoms:

  • Hepatomegaly
  • Splenomegaly
  • Immunodeficiency
  • Recurrent infections
  • Thrombocytopenia


SOURCES: OMIM MENDELIAN

More info about GRANULOMATOUS DISEASE, CHRONIC, X-LINKED; CDGX

High match BENIGN CHRONIC PEMPHIGUS; BCPM


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

High match AUTOIMMUNE ENTEROPATHY AND ENDOCRINOPATHY-SUSCEPTIBILITY TO CHRONIC INFECTIONS SYNDROME


Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome is an extremely rare, autosomal dominant immunological disorder characterized by variable enteropathy, endocrine disorders (e.g. type 1 diabetes mellitus, hypothyroidism), immune dysregulation with pulmonary and blood-borne bacterial infections, and fungal infections (chronic mucocutaneous candidiasis) developing in infancy. Other manifestations include short stature, eczema, hepatosplenomegaly, delayed puberty, and osteoporosis/osteopenia.

AUTOIMMUNE ENTEROPATHY AND ENDOCRINOPATHY-SUSCEPTIBILITY TO CHRONIC INFECTIONS SYNDROME Is also known as candf7|candidiasis, familial, 7|candidiasis, familial chronic mucocutaneous, autosomal dominant

Related symptoms:

  • Global developmental delay
  • Short stature
  • Growth delay
  • Anemia
  • Diarrhea


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOIMMUNE ENTEROPATHY AND ENDOCRINOPATHY-SUSCEPTIBILITY TO CHRONIC INFECTIONS SYNDROME

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Other less relevant matches:

High match KINDLER SYNDROME


Kindler syndrome (KS) is the fourth major type of epidermolysis bullosa (EB), besides simplex, junctional and dystrophic forms, and is characterized by skin fragility and blistering at birth followed by development of photosensitivity and progressive poikilodermatous skin changes.

KINDLER SYNDROME Is also known as poikiloderma, hereditary acrokeratotic|poikiloderma of kindler|poikiloderma, congenital, with bullae, weary type|bullous acrokeratotic poikiloderma of kindler and weary|ks

Related symptoms:

  • Anemia
  • Flexion contracture
  • Dysphagia
  • Syndactyly
  • Hyperkeratosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about KINDLER SYNDROME

High match COSTELLO SYNDROME


Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors.

COSTELLO SYNDROME Is also known as fcs syndrome|faciocutaneoskeletal syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about COSTELLO SYNDROME

Medium match ACNE INVERSA, FAMILIAL, 2, WITH OR WITHOUT DOWLING-DEGOS DISEASE; ACNINV2


Acne inversa is a chronic inflammatory disease of the hair follicles whose characteristic features include draining sinuses, painful skin abscesses, and disfiguring scars. Manifestations typically appear after puberty. Familial acne inversa is genetically heterogeneous (summary by Wang et al., 2010). Some patients with PSENEN-associated acne inversa also exhibit reticulate hyperpigmentation consistent with Dowling-Degos disease (DDD; see {179850}) (Zhou et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of acne inversa, see {142690}.

Related symptoms:

  • Neoplasm
  • Obesity
  • Hyperkeratosis
  • Carcinoma
  • Scarring


SOURCES: OMIM MENDELIAN

More info about ACNE INVERSA, FAMILIAL, 2, WITH OR WITHOUT DOWLING-DEGOS DISEASE; ACNINV2

Medium match IDIOPATHIC CD4 LYMPHOCYTOPENIA


Idiopathic CD4 lymphocytopenia is a rare primary immunodeficiency disorder characterized by persistent CD4 T-cell lymphopenia (less than 300 cells/µL on multiple occasions) not associated with any other underlying primary or secondary immune deficiency. Patients typically present opportunistic infections (with cryptococcal, mycobacterial, candidal, varicella zoster virus infections and progressive multifocal leukoencephalopathy being the most prevalent), malignancies (mainly lymphoproliferative disorders), or autoimmune disorders. Some individuals are asymptomatic and incidentally diagnosed.

IDIOPATHIC CD4 LYMPHOCYTOPENIA Is also known as icl|idiopathic cd4 lymphopenia

Related symptoms:

  • Neoplasm
  • Anemia
  • Immunodeficiency
  • Pneumonia
  • Carcinoma


SOURCES: OMIM ORPHANET MENDELIAN

More info about IDIOPATHIC CD4 LYMPHOCYTOPENIA

Medium match HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER; HLRCC


Hereditary leiomyomatosis and renal cell cancer is an autosomal dominant tumor predisposition syndrome characterized by the variable development of 3 tumors: cutaneous piloleiomyomata that develop in essentially all patients by age 40 years; leiomyomata (fibroids) of the uterus, and rarely leiomyosarcomas, at a mean age of 30 years (range, 18 to 52 years); and type 2 papillary renal cell carcinoma at a mean age of 46 years (range, 17 to 75 years), which occurs in about 20% of patients. Type 2 papillary renal cell carcinoma is a pathologic subtype characterized by large tumor cells with eosinophilic cytoplasm and pseudostratified nuclei; it shows an aggressive clinical course. Some patients with FH mutations may develop collecting duct renal cell carcinoma. The main focus of management in HLRCC is prevention of disease and death due to renal cancer (summary by Gardie et al., 2011; Smit et al., 2011; and Lehtonen, 2011).For a general discussion of papillary renal cell carcinoma, see RCCP1 (OMIM ).

HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER; HLRCC Is also known as mcl|multiple cutaneous and uterine leiomyomata 1, with or without renal cell carcinoma|mcul1|lrcc|leiomyoma, multiple cutaneous|leiomyomatosis and renal cell cancer, hereditary

Related symptoms:

  • Neoplasm
  • Pain
  • Cataract
  • Carcinoma
  • Skin rash


SOURCES: MESH OMIM MENDELIAN

More info about HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER; HLRCC

Medium match PORPHYRIA CUTANEA TARDA


Porphyria cutanea tarda (PCT) is characterized by light-sensitive dermatitis and the excretion of large amounts of uroporphyrin in urine (Elder et al., 1980).De Verneuil et al. (1978) and others classified porphyria cutanea tarda, the most common type of porphyria, into 2 types: type I (OMIM ), or 'sporadic' type, associated with approximately 50% level of uroporphyrinogen decarboxylase (UROD) in liver (Elder et al., 1978; Felsher et al., 1982), and type II, or 'familial' type, characterized by 50% deficient activity of the same enzyme in many tissues (Kushner et al., 1976; Elder et al., 1980).PCT type II is an autosomal dominant disorder with low penetrance and constitutes about 20% of cases of PCT. Recognized exacerbating factors of PCT include iron overload, excessive use of alcohol, exposure to polyhalogenated aromatic chemicals, exposure to estrogens, chronic viral hepatitis C, HIV infections, and mutation in the HFE gene (OMIM ) that are responsible for hereditary hemochromatosis (OMIM ) (review by Lambrecht et al., 2007).

PORPHYRIA CUTANEA TARDA Is also known as uroporphyrinogen decarboxylase deficiency|pct|pct, type ii|pct, 'familial' type|urod deficiency|porphyria cutanea tarda, type ii|porphyria, hepatocutaneous type

Related symptoms:

  • Anemia
  • Edema
  • Alopecia
  • Carcinoma
  • Erythema


SOURCES: OMIM ORPHANET MENDELIAN

More info about PORPHYRIA CUTANEA TARDA

Top 5 symptoms//phenotypes associated to Carcinoma and Eczema

Symptoms // Phenotype % cases
Inflammatory abnormality of the skin Uncommon - Between 30% and 50% cases
Neoplasm Uncommon - Between 30% and 50% cases
Anemia Uncommon - Between 30% and 50% cases
Squamous cell carcinoma Uncommon - Between 30% and 50% cases
Hyperkeratosis Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Carcinoma and Eczema. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Short stature Erythema Osteopenia Papule Cutaneous photosensitivity Growth delay Skin rash Sepsis Edema Pneumonia Abnormal blistering of the skin Immunodeficiency Hemolytic anemia

Rare Symptoms - Less than 30% cases


Hypopigmentation of the skin Abnormality of skin pigmentation Hepatomegaly Leukemia Sparse hair Postnatal growth retardation Hyperhidrosis Osteoporosis Alopecia Abnormality of the dentition Hypogonadism Poikiloderma Overgrowth Scarring Fragile skin Skin vesicle Atrophic scars Papilloma Abnormality of dental enamel Bladder neoplasm Pruritus Dysphagia Telangiectasia Autoimmune hemolytic anemia Inflammation of the large intestine Lymphopenia Hepatitis Delayed puberty Delayed skeletal maturation Global developmental delay Basal cell carcinoma Diarrhea Atypical scarring of skin Eczematoid dermatitis Colitis Recurrent skin infections Epidermal acanthosis Hematuria Recurrent Aspergillus infections Bladder carcinoma Frontal bossing Hyperpigmentation of the skin Hepatosplenomegaly Thrombocytopenia Intellectual disability Pain Cataract Feeding difficulties Recurrent infections Woolly hair Progeroid facial appearance Barrel-shaped chest Megalencephaly Fragile nails Large earlobe Thickened nuchal skin fold Microscopic hematuria Hoarse voice Severe postnatal growth retardation Obstructive sleep apnea Soft skin Neonatal hypoglycemia Arnold-Chiari type I malformation Thick upper lip vermilion Central hypotonia Tracheomalacia Generalized hyperpigmentation Ulnar deviation of finger Rhabdomyolysis Syringomyelia Lack of skin elasticity Achilles tendon contracture Deep palmar crease Hyperextensibility of the finger joints Pneumothorax Concave nail Thick vermilion border Hypoplasia of teeth Fasting hypoglycemia Broad philtrum Abnormal mitral valve morphology Asymmetric septal hypertrophy Labial hypoplasia Large forehead High, narrow palate Redundant neck skin Sleep disturbance Abnormality of the testis Curly hair Central apnea Postural instability Verrucae Ascites Neuroblastoma Large for gestational age Keratoconus Narrow palate Infantile muscular hypotonia Rhabdomyosarcoma Cutis laxa Acanthosis nigricans Hip dysplasia Mitral valve prolapse Abnormality of the fingernails Short chin Apraxia Thick lower lip vermilion Hemangioma Atrial fibrillation Hypoplasia of dental enamel Decreased body weight Long eyelashes Wide anterior fontanel Lymphedema Hydrops fetalis Cafe-au-lait spot Pointed chin Abnormality of the hair Abnormality of the skin Arnold-Chiari malformation Reduced subcutaneous adipose tissue Pleural effusion Tetraplegia Macroglossia Neurodevelopmental delay Rocker bottom foot Tricuspid regurgitation Hypoplastic toenails Bilateral cryptorchidism Hyperglycemia Full cheeks Heart murmur Nevus Relative macrocephaly Premature birth Aortic aneurysm Failure to thrive in infancy Redundant skin Pyloric stenosis Webbed neck Hyperextensible skin Poor suck Growth hormone deficiency Laryngomalacia Abnormal dermatoglyphics Ganglioneuroblastoma Broad femoral neck Back pain Uterine leiomyoma Papillary renal cell carcinoma Gastrointestinal stroma tumor Leiomyosarcoma Low back pain Renal neoplasm Renal cell carcinoma Abnormality of the musculature Nephroblastoma Breast carcinoma Vaginal neoplasm Neoplasm of the skin Bronchiolitis obliterans organizing pneumonia Opportunistic infection Bronchiolitis obliterans Bronchiolitis Hodgkin lymphoma Recurrent sinusitis Psoriasiform dermatitis Sinusitis Recurrent otitis media Barrett esophagus Uterine leiomyosarcoma Lymphoma Cerebral palsy Porphyrinuria Viral hepatitis Facial hypertrichosis Congenital hypoplastic anemia Alcoholism Anemia of inadequate production Onycholysis Hepatocellular carcinoma Scleroderma Hypopigmented skin patches Generalized hirsutism Cutaneous leiomyoma Thin skin Hypertrichosis Sudden cardiac death Hepatic steatosis Cirrhosis Abnormality of the liver Cutaneous leiomyosarcoma Decreased fumarate hydratase activity Papillary renal cell carcinoma type 2 Multiple cutaneous leiomyomas Otitis media Macular hyperpigmentation Schwannoma Abnormal pulmonary valve morphology Frontal hirsutism Tachycardia Transitional cell carcinoma of the bladder Concentric hypertrophic cardiomyopathy Hypopnea Shyness Postprandial hyperglycemia Body odor Ulnar deviation of the wrist Duodenal ulcer Capillary malformation Deep-set nails Triangular mouth Melena Hematemesis Deep plantar creases Thin nail Large face Bronchomalacia Fetal distress Limited elbow movement Abnormality of earlobe Vestibular Schwannoma Embryonal rhabdomyosarcoma Perifolliculitis Congenital neuroblastoma Chronic furunculosis Acne inversa Recurrent cutaneous abscess formation Reticular hyperpigmentation Follicular hyperkeratosis Acne Obesity Increased corneal curvature Systolic heart murmur Thickened Achilles tendon Lymphangiectasis Multifocal atrial tachycardia Alveolar rhabdomyosarcoma Tendon rupture Vitreomacular adhesion Myofiber disarray Enlarged cerebellum Macrocephaly at birth Loose anagen hair Cardiomyocyte hypertrophy Choroid plexus papilloma Neonatal sepsis Wide nose Absent speech Joint hypermobility Chronic mucocutaneous candidiasis Renovascular hypertension Antiphospholipid antibody positivity B lymphocytopenia Primary hypothyroidism Decrease in T cell count Enterocolitis Immune dysregulation Generalized osteoporosis Villous atrophy Abnormality of the endocrine system Autoimmune neutropenia Dilatation of the cerebral artery Hashimoto thyroiditis Pulmonary embolism Autoimmune thrombocytopenia Thyroiditis Patent foramen ovale Encephalitis Recurrent upper respiratory tract infections Leukoencephalopathy Abnormal intestine morphology Renal artery stenosis Functional abnormality of the bladder Type I diabetes mellitus Carious teeth Milia Ectropion Abnormality of the hand Dermal atrophy Palmoplantar hyperkeratosis Conjunctivitis Abnormality of the ribs Palmoplantar keratoderma Ichthyosis Dry skin Nail dystrophy Carotid artery dilatation Finger syndactyly Corneal opacity Camptodactyly of finger Syndactyly Flexion contracture Abnormal serum interferon-gamma level Medial calcification of large arteries Esophageal carcinoma Oropharyngeal squamous cell carcinoma Susceptibility to herpesvirus Purpura Bronchiectasis Cutaneous finger syndactyly Peritonitis Recurrent Klebsiella infections Decreased activity of NADPH oxidase Recurrent Staphylococcus aureus infections Lymphadenitis Discoid lupus rash Liver abscess Chorioretinitis Rectal abscess Recurrent bacterial skin infections Granulomatosis Pulmonary infiltrates Recurrent E. coli infections Cellulitis Increased antibody level in blood Pulmonary fibrosis Osteomyelitis Intestinal obstruction Glomerulonephritis Recurrent pneumonia Aspiration Lymphadenopathy Muscular dystrophy Recurrent Serratia marcescens infections Absence of bactericidal oxidative respiratory burst in phagocytes Pulmonary arterial hypertension Osteosarcoma Autoimmunity Hypothyroidism Diabetes mellitus Recurrent respiratory infections Dilatation Congestive heart failure Acrokeratosis Lamellar cataract Acantholysis Concave nasal ridge Alopecia of scalp Negative nitroblue tetrazolium reduction test Severe vision loss Striae distensae Erythroderma Melanoma Sparse scalp hair Prominent forehead Vomiting Visual impairment Deficiency or absence of cytochrome b(-245) Recurrent Burkholderia cepacia infections Aplasia/Hypoplasia of the skin Gingival bleeding Astigmatism Intellectual disability, mild Abnormal heart morphology Arrhythmia Pectus excavatum Hernia Splenomegaly Abnormality of cardiovascular system morphology Cerebral atrophy Renal insufficiency Long philtrum Short nose Myopathy Pes cavus Atrial septal defect Cardiomyopathy Hydrocephalus Short neck Respiratory insufficiency Anteverted nares Ventriculomegaly Talipes equinovarus Ventricular septal defect Abnormality of the skeletal system Inguinal hernia Severe short stature Macrocephaly Intellectual disability, moderate Joint hyperflexibility Pulmonic stenosis Hypermetropia Arthrogryposis multiplex congenita Pectus carinatum Wide mouth Irritability Feeding difficulties in infancy Apnea Low-set, posteriorly rotated ears Joint laxity Posteriorly rotated ears Hypertrophic cardiomyopathy Abnormality of the nervous system Hypoglycemia Coarse facial features Kyphoscoliosis Gastroesophageal reflux Polyhydramnios Proptosis Respiratory failure Cerebral cortical atrophy Downslanted palpebral fissures Myopia Turricephaly Premature loss of primary teeth Severe photosensitivity Spotty hyperpigmentation Phimosis Spotty hypopigmentation Urethral stricture Laryngeal stenosis Abnormality of the anus Overbite Esophageal stricture Cheilitis Ankyloglossia Overjet Short 5th metacarpal Ridged nail Amniotic constriction ring Short 4th metacarpal Corneal erosion Abnormal toenail morphology Esophagitis Periodontitis Gingivitis Abnormality of the skull Symblepharon Diffuse skin atrophy Dysarthria Muscular hypotonia Epicanthus Hypertension Motor delay Depressed nasal bridge Delayed speech and language development High palate Cognitive impairment Low-set ears Ptosis Cryptorchidism Abnormal facial shape Acral blistering Strabismus Micrognathia Failure to thrive Nystagmus Hypertelorism Scoliosis Generalized hypotonia Seizures Neoplasm of the urethra Telangiectases in sun-exposed and nonexposed skin Hyperpigmentation in sun-exposed areas



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