Hepatomegaly, and Alopecia

Diseases related with Hepatomegaly and Alopecia

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

Top matches:

Classical mycosis fungoides is the most common type of mycosis fungoides (MF; see this term), a form of cutaneous T-cell lymphoma, and is characterized by slow progression from patches to more infiltrated plaques and eventually to tumors.

CLASSIC MYCOSIS FUNGOIDES Is also known as mycosis fungoides, alibert-bazin type

Related symptoms:

  • Hepatomegaly
  • Edema
  • Splenomegaly
  • Alopecia
  • Hyperkeratosis


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CLASSIC MYCOSIS FUNGOIDES

Pachyonychia congenita (PC) is a rare genodermatosis predominantly featuring painful palmoplantar keratoderma, thickened nails, cysts and whitish oral mucosa.

PACHYONYCHIA CONGENITA Is also known as pc

Related symptoms:

  • Cataract
  • Cognitive impairment
  • Hepatomegaly
  • Respiratory insufficiency
  • Abnormality of the dentition


SOURCES: ORPHANET OMIM MENDELIAN

More info about PACHYONYCHIA CONGENITA

Neonatal ichthyosis-sclerosing cholangitis (NISCH syndrome) is a very rare complex ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, ichthyosis and sclerosing cholangitis.

NEONATAL ICHTHYOSIS-SCLEROSING CHOLANGITIS SYNDROME Is also known as ihsc|neonatal ichthyosis-sclerosing cholangitis syndrome|ichthyosis-hypotrichosis-sclerosing cholangitis syndrome|ichthyosis-sclerosing cholangitis syndrome|nisch syndrome

Related symptoms:

  • Hepatomegaly
  • Splenomegaly
  • Alopecia
  • Jaundice
  • Scarring


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about NEONATAL ICHTHYOSIS-SCLEROSING CHOLANGITIS SYNDROME

Other less relevant matches:

Immunodeficiency due to CD25 deficiency is a rare, genetic, primary immunodeficiency due to a defect in adaptive immunity disorder characterized by severe immunodeficiency, presenting with profound susceptibility to viral, fungal and bacterial infections due to impaired CD25-mediated T-regulatory cell function, in association with severe autoimmune disease, such as alopecia universalis, erythrodermia, and autoimmune thyroiditis and enteropathy.

IMMUNODEFICIENCY DUE TO CD25 DEFICIENCY Is also known as cd25 deficiency|interleukin 2 receptor, alpha, deficiency of|interleukin-2 receptor alpha chain deficiency|il2ra deficiency

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Respiratory insufficiency
  • Diarrhea
  • Splenomegaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about IMMUNODEFICIENCY DUE TO CD25 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

Argininosuccinic aciduria (ASA) is a disorder of urea cycle metabolism most commonly characterized by either a severe, neonatal-onset form that manifests with hyperammonemia accompanied with vomiting, hypothermia, lethargy and poor feeding in the first few days of life, or late-onset forms (any age outside the newborn period) that manifest with stress or infection-induced episodic hyperammonemia or, in some, behavioral abnormalities and/or learning disabilities. Patients often manifest liver dysfunction.

ARGININOSUCCINIC ACIDURIA Is also known as argininosuccinic acid lyase deficiency|asa deficiency|argininosuccinase deficiency|argininosuccinatelyase deficiency|argininosuccinate lyase deficiency|asl deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Ataxia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about ARGININOSUCCINIC ACIDURIA

CHANARIN-DORFMAN SYNDROME; CDS Is also known as neutral lipid storage disease with ichthyosis|dcs|nlsdi|triglyceride storage disease with impaired long-chain fatty acid oxidation|dorfman-chanarin syndrome|chanarin-dorfman disease|ichthyosiform erythroderma with leukocyte vacuolation|ichthyotic neutral

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CHANARIN-DORFMAN SYNDROME; CDS

DORFMAN-CHANARIN DISEASE Is also known as neutral lipid storage disease with ichthyosis|nlsdi

Related symptoms:


SOURCES: ORPHANET MENDELIAN

More info about DORFMAN-CHANARIN DISEASE

Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome is a rare, genetic, hereditary poikiloderma syndrome characterized by early-onset poikiloderma (mainly on the face), hypotrichosis, hypohidrosis, muscle and tendon contractures with varus foot deformity, progressive proximal and distal muscle weakness in all extremities, and progressive pulmonary fibrosis. Mild lymphedema of the extremities, growth retardation, liver impairment, exocrine pancreatic insufficiency and hematologic abnormalities are additional variable features.

HEREDITARY FIBROSING POIKILODERMA-TENDON CONTRACTURES-MYOPATHY-PULMONARY FIBROSIS SYNDROME Is also known as poiktmp syndrome|poikiloderma, hereditary sclerosing, with tendon and pulmonary involvement

Related symptoms:

  • Scoliosis
  • Muscle weakness
  • Cataract
  • Flexion contracture
  • Hepatomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEREDITARY FIBROSING POIKILODERMA-TENDON CONTRACTURES-MYOPATHY-PULMONARY FIBROSIS SYNDROME

Symptomatic form of hemochromatosis type 1 is a rare, hereditary hemochromatosis characterized by inappropriately regulated intestinal iron absorption which leads to excessive iron storage in various organs and manifests with a wide range of signs and symptoms, including abdominal pain, weakness, lethargy, weight loss, elevated serum aminotransferase levels, increase in skin pigmentation, and/or arthropathy in the metacarpophalangeal joints. Other commonly associated manifestations include hepatomegaly, cirrhosis, liver fibrosis, hepatocellular carcinoma, restrictive cardiomyopathy and/or diabetes mellitus.

SYMPTOMATIC FORM OF HEMOCHROMATOSIS TYPE 1 Is also known as symptomatic form of hfe-related hereditary hemochromatosis|symptomatic form of classic hemochromatosis

Related symptoms:

  • Peripheral neuropathy
  • Hepatomegaly
  • Fatigue
  • Cardiomyopathy
  • Congestive heart failure


SOURCES: ORPHANET MENDELIAN

More info about SYMPTOMATIC FORM OF HEMOCHROMATOSIS TYPE 1

Top 5 symptoms//phenotypes associated to Hepatomegaly and Alopecia

Symptoms // Phenotype % cases
Splenomegaly Uncommon - Between 30% and 50% cases
Erythroderma Uncommon - Between 30% and 50% cases
Lymphadenopathy Uncommon - Between 30% and 50% cases
Edema Uncommon - Between 30% and 50% cases
Ichthyosis Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hepatomegaly and Alopecia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Cataract Hepatosplenomegaly Dry skin Hypotrichosis

Rare Symptoms - Less than 30% cases

Diabetes mellitus Hyperhidrosis Nail dystrophy Intellectual disability Immunodeficiency Cirrhosis Ectropion Muscle weakness Myopathy Respiratory insufficiency Skeletal muscle atrophy Peripheral neuropathy Hyperkeratosis Scarring Cholestasis Abnormality of blood and blood-forming tissues Hepatic steatosis Palmoplantar keratoderma Cognitive impairment Short stature Lymphoma Eczema Pneumonia Abnormality of the nail Neoplasm of the skin Ataxia Skin rash Pruritus Irregular hyperpigmentation Psoriasiform dermatitis Poikiloderma T-cell lymphoma Cutaneous T-cell lymphoma Abnormal lymphocyte morphology Skin plaque Scaling skin Global developmental delay Respiratory alkalosis Muscular dystrophy Sensorineural hearing impairment Areflexia Nystagmus Hearing impairment Microtia Episodic ammonia intoxication Hyperglutaminemia Protein avoidance Ptosis Hypoargininemia Strabismus Intellectual disability, progressive Oroticaciduria Aminoaciduria Abnormality of the liver Attention deficit hyperactivity disorder Irritability Lethargy Coma Aciduria Decreased liver function Hepatic fibrosis Tachypnea Abnormal hair quantity Hyperammonemia Brittle hair Hyperventilation Increased reactive oxygen species production Alkalosis Cerebral edema Dry hair Trichorrhexis nodosa Febrile seizures Delayed puberty Everted lower lip vermilion Vertigo Erysipelas Mottled pigmentation Fatigue Cardiomyopathy Congestive heart failure Osteoporosis Hypogonadism Arthralgia Retinopathy Ascites Heat intolerance Limitation of joint mobility Hyperpigmentation of the skin Gynecomastia Joint dislocation Impotence Arthropathy Hepatocellular carcinoma Exocrine pancreatic insufficiency Increased serum ferritin Chondrocalcinosis Thin eyebrow Achilles tendon contracture Aortic regurgitation Dyspnea Congenital ichthyosiform erythroderma Subcapsular cataract Congenital nonbullous ichthyosiform erythroderma Decreased plasma carnitine Generalized ichthyosis Scoliosis Flexion contracture Gait disturbance Obesity Elevated serum creatine phosphokinase Papule Raynaud phenomenon EEG abnormality Hypopigmentation of the skin Nail dysplasia Fine hair Telangiectasia Hypohidrosis Clubbing Pulmonary fibrosis Truncal obesity Scleroderma Feeding difficulties in infancy Abnormal facial shape Hyperactivity Portal hypertension Epidermal acanthosis Hypoplasia of dental enamel Sparse and thin eyebrow Hyperbilirubinemia Abnormality of dental enamel Sparse eyelashes Acanthosis nigricans Oligodontia Sparse body hair Hypodontia Parakeratosis Alopecia of scalp Cholangitis Concave nail Thick hair Orthokeratosis Hypotrichosis of the scalp Scarring alopecia of scalp Sclerosing cholangitis Hepatitis Jaundice Acute hepatitis Abnormality of the hair Erythema Skin ulcer Hypopigmented skin patches Abnormal eyelid morphology Abnormality of bone marrow cell morphology Abnormality of the dentition Carious teeth Abnormal blistering of the skin Abnormality of the fingernails Steatocystoma multiplex Corneal dystrophy Laryngomalacia Anonychia Natal tooth Hamartoma Oral leukoplakia Thick nail Epidermoid cyst Abnormality of nail color Absent hair Anemia Encephalopathy Weight loss Decrease in T cell count Bronchiolitis Recurrent fungal infections Granulocytopenia Chronic hemolytic anemia Neoplasm Fever Tremor Abnormality of the face Villous atrophy Thickened skin Gangrene Abnormality of the pleura Lichenification Abnormal immunoglobulin level Seizures Failure to thrive Hypertension Vomiting Immune dysregulation Recurrent viral infections Diarrhea Recurrent bacterial infections Recurrent infections Recurrent respiratory infections Hypothyroidism Respiratory tract infection Hemolytic anemia Inflammatory abnormality of the skin Abnormal lung morphology Chronic diarrhea Type I diabetes mellitus Abnormal intestine morphology Chronic lung disease Increased antibody level in blood Autoimmune hemolytic anemia IgA deficiency Thyroiditis Iron deficiency anemia Atopic dermatitis Gingivitis Antinuclear antibody positivity Esophagitis Abnormality of the hypothalamus-pituitary axis


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