Hepatomegaly, and Dry skin

Diseases related with Hepatomegaly and Dry skin

In the following list you will find some of the most common rare diseases related to Hepatomegaly and Dry skin 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

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

High 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:

The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by Waterham and Ebberink, 2012).For a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see {601539}.Individuals with mutations in the PEX12 gene have cells of complementation group 3 (CG3). For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 3B; PBD3B

High match OMENN SYNDROME

Omenn syndrome (OS) is an inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID; see this term).

OMENN SYNDROME Is also known as combined immunodeficiency with hypereosinophilia|reticuloendotheliosis, familial, with eosinophilia|severe combined immunodeficiency with hypereosinophilia

Related symptoms:

  • Failure to thrive
  • Anemia
  • Hepatomegaly
  • Fever
  • Edema


SOURCES: ORPHANET OMIM MENDELIAN

More info about OMENN SYNDROME

Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement.

GAUCHER DISEASE-OPHTHALMOPLEGIA-CARDIOVASCULAR CALCIFICATION SYNDROME Is also known as cardiovascular gaucher disease|gaucher-like disease|gaucher disease type 3c

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about GAUCHER DISEASE-OPHTHALMOPLEGIA-CARDIOVASCULAR CALCIFICATION SYNDROME

Related symptoms:

  • Short stature
  • Ataxia
  • Failure to thrive
  • Visual impairment
  • Hepatomegaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE; AEZ

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

Syndromic diarrhea (SD), or tricho-hepato-enteric syndrome (THE), is a severe congenital enteropathy manifesting as intractable diarrhea in the first month of life with failure to thrive and associated with facial dysmorphism, hair abnormalities, and, in some cases, immune disorders and intrauterine growth restriction.

SYNDROMIC DIARRHEA Is also known as trichohepatoenteric syndrome|tricho-hepato-enteric syndrome|diarrhea, fatal infantile, with trichorrhexis nodosa|sd/the|the syndrome|phenotypic diarrhea|diarrhea, syndromic|syndromic diarrhea/tricho-hepato-enteric syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Growth delay
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

More info about SYNDROMIC DIARRHEA

High match DK1-CDG

DK1-CDG is characterised by muscular hypotonia and ichthyosis. It has been described in four children from two consanguineous families. All the affected children died during early infancy, two from dilated cardiomyopathy. The syndrome is caused by a deficiency in dolichol kinase 1 (DK1), an enzyme involved in the de novo biosynthesis of dolichol phosphate. The mutations identified in the DK1 gene led to a 96 to 98% reduction in DK activity.

DK1-CDG Is also known as cdg-im|cdg im|hypotonia and ichthyosis due to dolichol phosphate deficiency|cdg syndrome type im|congenital disorder of glycosylation type im|congenital disorder of glycosylation type 1m|cdgim|dk1 deficiency|cdg1m|carbohydrate deficient glycoprotein syndr

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Growth delay


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DK1-CDG

Top 5 symptoms//phenotypes associated to Hepatomegaly and Dry skin

Symptoms // Phenotype % cases
Splenomegaly Common - Between 50% and 80% cases
Alopecia Common - Between 50% and 80% cases
Erythroderma Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Hypotrichosis Inflammatory abnormality of the skin Diarrhea Hepatosplenomegaly Edema Short stature Skin rash Pruritus Skin ulcer Elevated hepatic transaminase Visual impairment Hypertelorism Lymphoma Hearing impairment Intellectual disability Depressed nasal ridge Anemia Erythema Thrombocytopenia Abnormal lymphocyte morphology Hyperkeratosis Chronic diarrhea Lymphadenopathy Psoriasiform dermatitis Immunodeficiency Abnormal facial shape Strabismus

Rare Symptoms - Less than 30% cases

Seizures Thickened skin Palmoplantar keratoderma Recurrent pneumonia Nail dystrophy Ataxia Weight loss Malar flattening Nystagmus Sepsis Congestive heart failure Pancytopenia Leukopenia Cognitive impairment Growth delay Aortic regurgitation Papule Muscular hypotonia Steatorrhea Abnormal bleeding Abnormality of the immune system Osteoporosis Hyporeflexia Wide nasal bridge Tremor Generalized hypotonia Fever Alopecia of scalp Jaundice Hepatitis Cutaneous T-cell lymphoma T-cell lymphoma Downslanted palpebral fissures Sparse and thin eyebrow Depressed nasal bridge Sparse eyelashes Prominent forehead Irregular hyperpigmentation Scaling skin Proptosis Ichthyosis Thin skin Cerebral cortical atrophy Neoplasm of the skin Diffuse telangiectasia Vomiting Abnormality of the liver Abnormality of the middle ear Poliosis Facial hirsutism Crusting erythematous dermatitis Wide mouth Intellectual disability, severe Respiratory tract infection Abnormality of the pinna Anteverted nares Ventricular septal defect Recurrent cystitis Delayed speech and language development Narrow mouth Low-set ears Abnormal heart morphology White forelock Intrauterine growth retardation Hernia Frontal bossing Micrognathia Long philtrum High palate Polyhydramnios Prolonged neonatal jaundice Concave nasal ridge Asthma Genu valgum Ptosis Arachnodactyly Hirsutism Abnormality of the fingernails Generalized hirsutism Low anterior hairline High forehead Convex nasal ridge Lymphedema Dehydration Low posterior hairline Cutaneous photosensitivity Abnormal lung morphology Carious teeth Reduced bone mineral density Chronic lung disease Abnormality of the hip bone Intellectual disability, mild Hypoplasia of the zygomatic bone Abnormality of retinal pigmentation Short nose Recurrent infections Aplasia/Hypoplasia of the skin Elevated erythrocyte sedimentation rate Systemic lupus erythematosus Abnormality of metabolism/homeostasis Petechiae Increased antibody level in blood Obesity Recurrent respiratory infections Osteomyelitis Bilateral single transverse palmar creases Villous atrophy Sparse hair Myalgia Postnatal microcephaly Hypsarrhythmia Cyanosis Tetraplegia Neutropenia Dilated cardiomyopathy Apnea Hypoglycemia Aspiration Elevated serum creatine phosphokinase Arrhythmia Absent speech Dilatation Renal insufficiency Cardiomyopathy Muscle weakness Bradycardia Severe muscular hypotonia Large placenta Myocarditis Adactyly Abnormal isoelectric focusing of serum transferrin Reduced antithrombin III activity Type I transferrin isoform profile Aplasia/Hypoplasia of the nipples Congenital hepatic fibrosis Hypoketotic hypoglycemia Epileptic spasms Ventricular tachycardia Microcytic anemia Lipoatrophy Neurodevelopmental delay Abnormality of coagulation Bilateral talipes equinovarus Hyperglycemia Ventricular fibrillation Sacral dimple Abnormalities of placenta or umbilical cord Abnormality of iron homeostasis Microtia Premature birth Hypoalbuminemia Recurrent upper respiratory tract infections Abnormality of the hair Hepatic fibrosis Fine hair Tetralogy of Fallot Aciduria Bifid uvula Curly hair Wide nose Hepatic failure Cirrhosis Delayed puberty Pulmonic stenosis Small for gestational age Broad forehead Brittle hair Iron deficiency anemia Galactosuria Intermittent diarrhea Humoral immunodeficiency Hypermethioninemia Renal cortical microcysts Increased serum iron Hypergalactosemia Secretory diarrhea Intractable diarrhea Increased mean platelet volume Underdeveloped supraorbital ridges Trichorrhexis nodosa Peripheral pulmonary artery stenosis Abnormal thrombocyte morphology Abnormality of the pancreas Low alkaline phosphatase Large forehead Woolly hair Thrombocytosis Increased serum zinc Decreased beta-glucocerebrosidase protein and activity Recurrent candida infections Decreased liver function Severe short stature Pneumonia Very long chain fatty acid accumulation Esodeviation Hypocholesterolemia Abnormal electroretinogram Polyneuropathy Autoimmunity Single transverse palmar crease Retinal dystrophy Flat face Rod-cone dystrophy Areflexia Dysarthria Cataract Hypothyroidism Nephrotic syndrome Abnormal immunoglobulin level Aplasia/Hypoplasia of the eyebrow Cellular immunodeficiency Hypoplasia of the thymus Recurrent viral infections Hypoproteinemia Severe combined immunodeficiency Hashimoto thyroiditis Thyroiditis Combined immunodeficiency Abnormality of the metaphysis Leukocytosis Eosinophilia Disproportionate short-limb short stature Shock Recurrent bacterial infections Increased body weight Short toe Sensorineural hearing impairment Lichenification B lymphocytopenia Hypodontia Acanthosis nigricans Abnormality of dental enamel Hyperbilirubinemia Hypoplasia of dental enamel Cholestasis Epidermal acanthosis Scarring Portal hypertension Skin plaque Abnormality of bone marrow cell morphology Poikiloderma Abnormal eyelid morphology Hypopigmented skin patches Abnormality of the nail Eczema Oligodontia Sparse body hair Abnormality of the pleura Absent hair Gangrene Ectropion Abnormality of the face Skeletal muscle atrophy Peripheral neuropathy Neoplasm Acute hepatitis Sclerosing cholangitis Abnormality of blood and blood-forming tissues Scarring alopecia of scalp Hypotrichosis of the scalp Orthokeratosis Thick hair Concave nail Cholangitis Parakeratosis Metaphyseal chondrodysplasia Recurrent fungal infections Decreased taste sensation Hypometric horizontal saccades Irritability Photophobia Hypogonadism Cardiovascular calcification Aortic arch calcification Abnormal common carotid artery morphology Slowed horizontal saccades Malabsorption Cardiac valve calcification Abnormality of toe Bacterial endocarditis Calcification of the aorta Elevated serum acid phosphatase Abnormal aortic arch morphology Spontaneous, recurrent epistaxis Lethargy Decreased testicular size Mitral valve calcification Furrowed tongue Paronychia Ridged fingernail Glossitis Decreased testosterone in males Impaired T cell function Cheilitis Ridged nail Corneal erosion Abnormal blistering of the skin Abnormal eyebrow morphology Blepharitis Pustule Poor appetite Emotional lability Conjunctivitis Anorexia Supranuclear ophthalmoplegia Corneal crystals Protracted diarrhea Brachycephaly Mitral regurgitation Ventricular hypertrophy Cardiomegaly Ophthalmoplegia Generalized tonic-clonic seizures Corneal opacity Pallor Pes cavus Aortic valve stenosis Hypertonia Hydrocephalus Respiratory distress Spasticity Severe B lymphocytopenia Desquamation of skin soon after birth Generalized lymphadenopathy Decreased body weight Horizontal nystagmus Abnormal saccadic eye movements Supranuclear gaze palsy Aortic valve calcification Reticular hyperpigmentation Abnormal aortic morphology Abnormality of the pulmonary artery Abnormal aortic valve morphology Abnormal mitral valve morphology Foam cells Communicating hydrocephalus Opacification of the corneal stroma Mitral stenosis Abnormal EKG Abnormal heart valve morphology Exertional dyspnea Heart murmur Cachexia Oculomotor apraxia Aplasia of the fingers


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