Hepatomegaly, and Ichthyosis

Diseases related with Hepatomegaly and Ichthyosis

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

Top matches:

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

Hematologically, McLeod syndrome is characterized by the absence of red blood cell Kx antigen, weak expression of Kell red blood cell antigens, acanthocytosis, and compensated hemolysis. Most carriers of this McLeod blood group phenotype have acanthocytosis and elevated serum creatine kinase levels and are prone to develop a severe neurologic disorder resembling Huntington disease (OMIM ). Onset of neurologic symptoms ranges between 25 and 60 years (mean onset 30-40 years), and penetrance appears to be high. Additional symptoms include generalized seizures, neuromuscular symptoms leading to weakness and atrophy, and cardiomyopathy mainly manifesting with atrial fibrillation, malignant arrhythmias, and dilated cardiomyopathy (summary by Jung et al., 2007).The cooccurrence of McLeod syndrome and chronic granulomatous disease (CGD ) results from a contiguous gene deletion (Francke et al., 1985).

MCLEOD SYNDROME; MCLDS Is also known as mcleod phenotype|neuroacanthocytosis, mcleod type

Related symptoms:

  • Seizures
  • Muscle weakness
  • Cognitive impairment
  • Anemia
  • Peripheral neuropathy


SOURCES: MESH OMIM MENDELIAN

More info about MCLEOD SYNDROME; MCLDS

Other less relevant matches:

Neutral lipid storage disease with myopathy is an autosomal recessive muscle disorder characterized by adult onset of slowly progressive proximal muscle weakness affecting the upper and lower limbs and associated with increased serum creatine kinase; distal muscle weakness may also occur. About half of patients develop cardiomyopathy later in the disease course. Other variable features include diabetes mellitus, hepatic steatosis, hypertriglyceridemia, and possibly sensorineural hearing loss. Leukocytes and muscle cells show cytoplasmic accumulation of triglycerides (summary by Reilich et al., 2011).Neutral lipid storage disease with myopathy belongs to a group of disorders termed neutral lipid storage disorders (NLSDs). These disorders are characterized by the presence of triglyceride-containing cytoplasmic droplets in leukocytes and in other tissues, including bone marrow, skin, and muscle. Chanarin-Dorfman syndrome (CDS ) is defined as NLSD with ichthyosis (NLSDI). Patients with NLSDM present with myopathy but without ichthyosis (summary by Fischer et al., 2007).

NEUTRAL LIPID STORAGE MYOPATHY Is also known as neutral lipid storage disease with myopathy without ichthyosis|nlsdm|triglyceride deposit cardiomyovasculopathy|neutral lipid storage disease without ichthyosis

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUTRAL LIPID STORAGE MYOPATHY

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

Mastocytosis, or mast cell disease, is a heterogeneous group of clinical disorders characterized by the abnormal accumulation of mast cells in various tissues, especially in the skin and hematopoietic organs. Mastocytosis usually appears in infancy or early adulthood. In most pediatric cases, the disease is limited to the skin, but it can be associated with systemic symptoms due to the release of mediators from mast cells, even when there is no systemic infiltration. It usually has a good prognosis, with substantial improvement or spontaneous resolution before puberty. In rare cases, the disease may remain active through adolescence as a systemic adult mastocytosis. Cutaneous mastocytosis is characterized by macules, papules, nodules, or diffuse infiltration of the skin, often associated with localized hyperpigmentation. Gentle rubbing of the lesions induces histamine release from mechanically activated mast cells, causing local wheals, erythema, and often pruritus, a phenomenon termed the 'Darier sign.' In contrast to childhood-onset mastocytosis, adult-onset mastocytosis often persists for the lifetime of the patient and is also more likely to be a severe and systemic disease involving numerous organs. In some cases, it is associated with a clonal hematologic non-mast-cell lineage disease, such as a myelodysplastic or myeloproliferative disorder. Adult-onset mastocytosis can also lead to the rare mast cell leukemia, which carries a high risk of mortality (summary by Bodemer et al., 2010 and Kambe et al., 2010).

MASTOCYTOSIS, CUTANEOUS; MASTC Is also known as mastocytosis, maculopapular cutaneous|mastocytosis, diffuse cutaneous|urticaria pigmentosa

Related symptoms:

  • Neoplasm
  • Pain
  • Anemia
  • Hypertension
  • Hepatomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about MASTOCYTOSIS, CUTANEOUS; MASTC

Muckle-Wells syndrome (MWS) is an intermediate form of cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent fever (with malaise and chills), recurrent urticaria-like skin rash, sensorineural deafness, general signs of inflammation (eye redness, headaches, arthralgia/myalgia) and potentially life-threatening secondary amyloidosis (AA type).

MUCKLE-WELLS SYNDROME Is also known as neutrophilic urticaria

Related symptoms:

  • Short stature
  • Anemia
  • Hepatomegaly
  • Fever
  • Optic atrophy


SOURCES: ORPHANET MENDELIAN

More info about MUCKLE-WELLS SYNDROME

Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation.

SHWACHMAN-DIAMOND SYNDROME Is also known as pancreatic insufficiency and bone marrow dysfunction|shwachman syndrome|shwachman-bodian syndrome|shwachman-diamond syndrome|shwachman-bodian-diamond syndrome|sds|lipomatosis of pancreas, congenital

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHWACHMAN-DIAMOND SYNDROME

Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS; see this term), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD) (see this term).

INFANTILE REFSUM DISEASE Is also known as adrenoleukodystrophy, autosomal neonatal|infantile phytanic acid storage disease|peroxisome biogenesis disorder (nald/ird)|ird|refsum disease, infantile|peroxisome biogenesis disorder (neonatal adrenoleukodystrophy/infantile refsum disease)

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about INFANTILE REFSUM DISEASE

Top 5 symptoms//phenotypes associated to Hepatomegaly and Ichthyosis

Symptoms // Phenotype % cases
Short stature Uncommon - Between 30% and 50% cases
Splenomegaly Uncommon - Between 30% and 50% cases
Anemia Uncommon - Between 30% and 50% cases
Myalgia Uncommon - Between 30% and 50% cases
Sensorineural hearing impairment Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Hearing impairment Generalized hypotonia Hepatosplenomegaly Cataract Global developmental delay Arrhythmia Myopathy Cardiomyopathy Skeletal muscle atrophy Abnormality of blood and blood-forming tissues Areflexia Intellectual disability Muscle weakness Alopecia

Rare Symptoms - Less than 30% cases

Malabsorption Respiratory tract infection Failure to thrive Growth delay Recurrent aphthous stomatitis Behavioral abnormality Optic atrophy Urticaria Elevated serum creatine phosphokinase Leukopenia Muscular dystrophy Bone marrow hypocellularity Cognitive impairment Osteoporosis Thrombocytopenia Pain Fatigue Recurrent infections Elevated hepatic transaminase Skin rash Hepatic steatosis Arthralgia Progressive muscle weakness Seizures Abdominal pain Ataxia Nystagmus Neoplasm Leukemia Cirrhosis Jaundice Abnormal blistering of the skin Portal hypertension Scaling skin Erythroderma Carious teeth Pectus carinatum Respiratory insufficiency Skeletal dysplasia Osteopenia Concave nail Delayed skeletal maturation Immunodeficiency Intellectual disability, mild Respiratory distress Abnormality of the skeletal system Gait disturbance Abnormality of the dentition Hyperhidrosis Scoliosis Small for gestational age Generalized muscle weakness Narrow chest Neutropenia Hernia of the abdominal wall Sepsis Specific learning disability Microdontia Eczema Apraxia Pancytopenia Abnormality of the metaphysis Decreased liver function Short ribs Type I diabetes mellitus Nephrocalcinosis Renal amyloidosis Abnormality of the nose Episcleritis Camptodactyly of finger Mastocytosis Dermatographic urticaria Cutaneous mastocytosis Anaphylactic shock Chronic leukemia Telangiectasia macularis eruptiva perstans Fever Nail dystrophy Macrocephaly Abnormality of metabolism/homeostasis Pes cavus Glaucoma Arthritis Delayed puberty Hyperkeratosis Nephropathy Nephrotic syndrome Abnormality of the genital system Vasculitis Conjunctivitis Cranial nerve paralysis Abnormal palate morphology Abnormality of the voice Restrictive ventilatory defect Elevated erythrocyte sedimentation rate Progressive sensorineural hearing impairment Uveitis Broad foot Coxa vara Recurrent bacterial infections Neonatal respiratory distress Myelodysplasia Abnormality of the face Absent speech Rod-cone dystrophy Acidosis High forehead Neonatal hypotonia Facial palsy Postnatal growth retardation Retinopathy Nyctalopia Dolichocephaly Congenital cataract Renal cyst Esotropia Convex nasal ridge Large fontanelles Anteverted nares Nephrolithiasis Abnormality of epiphysis morphology Rhizomelia Hepatic fibrosis Leukodystrophy Spinal muscular atrophy Impulsivity Constriction of peripheral visual field Severe hearing impairment Epiphyseal stippling Hypocholesterolemia Hyperoxaluria Progressive spinal muscular atrophy Very long chain fatty acid accumulation Midface retrusion Wide nasal bridge Metaphyseal widening Persistence of hemoglobin F Food intolerance Short thorax Steatorrhea Multiple lipomas Myeloid leukemia Acute myeloid leukemia Exocrine pancreatic insufficiency Ovoid vertebral bodies Aplastic anemia Recurrent viral infections Acute monocytic leukemia Metaphyseal chondrodysplasia Anterior rib cupping Metaphyseal sclerosis Paroxysmal nocturnal hemoglobinuria Epicanthus Enlargement of the costochondral junction Proximal femoral metaphyseal irregularity Myocardial necrosis Metaphyseal dysostosis Proximal femoral epiphysiolysis Narrow sacroiliac notch Irregular ossification at anterior rib ends Abnormal facial shape Muscular hypotonia Spasticity Low-set ears High palate Delayed speech and language development Visual impairment Abnormality of the gastric mucosa Immunologic hypersensitivity Abnormal eosinophil morphology Congestive heart failure Aspiration pneumonia Motor axonal neuropathy Acanthocytosis Tics Personality disorder Abetalipoproteinemia Phonic tics Sparse and thin eyebrow Hypoplasia of dental enamel Cholestasis Epidermal acanthosis Hepatitis Hypodontia Dry skin Abnormality of the musculature Obesity Diabetes mellitus Difficulty walking Hypotrichosis Proximal muscle weakness Scarring Distal muscle weakness Waddling gait Hypertriglyceridemia Steatocystoma multiplex Insulin resistance Fasciculations Exercise intolerance Hyperlipidemia Rhabdomyolysis Obsessive-compulsive behavior Psoriasiform dermatitis Depressivity Orthokeratosis Hypotrichosis of the scalp Scarring alopecia of scalp Sclerosing cholangitis Absent hair Acute hepatitis Cholangitis Alopecia of scalp Parakeratosis Peripheral neuropathy Dysarthria Sparse body hair Dystonia Oligodontia EMG abnormality Acanthosis nigricans Sparse eyelashes Pneumonia Myoclonus Abnormality of dental enamel Anxiety Hyperbilirubinemia Dilated cardiomyopathy Dyskinesia Chorea Generalized-onset seizure Cardiomegaly Atrial fibrillation Aspiration Easy fatigability Gowers sign Impaired temperature sensation Bone pain Abnormality of the nail Nausea and vomiting Lymphadenopathy Nausea Abnormality of the hair Tachycardia Recurrent fractures Ascites Sudden cardiac death Asthma Gastrointestinal hemorrhage Hypotension Telangiectasia Osteolysis Papule Palmoplantar keratoderma Shock Sarcoma Loss of consciousness Hypermelanotic macule Acute leukemia Flushing Allergy Generalized osteosclerosis Myeloproliferative disorder Hypersplenism Gastrointestinal stroma tumor Thick hair Asthenia Pruritus Abnormality of the fingernails Difficulty running Subcapsular cataract Neck muscle weakness Progressive proximal muscle weakness Increased muscle lipid content Abnormality of nail color Skin plaque Epidermoid cyst Thick nail Strabismus Ptosis Microtia Everted lower lip vermilion Aortic regurgitation Ectropion Congenital ichthyosiform erythroderma Congenital nonbullous ichthyosiform erythroderma Corneal dystrophy Decreased plasma carnitine Generalized ichthyosis Oral leukoplakia Hypertension Edema Diarrhea Headache Hamartoma Natal tooth Anonychia Weight loss Gastroesophageal reflux Laryngomalacia Erythema Elevated levels of phytanic acid


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