Hepatomegaly, and Nail dystrophy

Diseases related with Hepatomegaly and Nail dystrophy

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

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

Cronkhite-Canada syndrome (CCS) is a rare gastrointestinal (GI) polyposis syndrome characterized by the association of non-hereditary GI polyposis with the cutaneous triad of alopecia, nail changes and hyperpigmentation.

CRONKHITE-CANADA SYNDROME Is also known as gastrointestinal polyposis-skin pigmentation-alopecia-fingernail changes syndrome|gastrointestinal polyposis-ectodermal changes syndrome|cronkhite-canada syndrome

Related symptoms:

  • Seizures
  • Neoplasm
  • Muscle weakness
  • Pain
  • Cataract


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CRONKHITE-CANADA SYNDROME

Other less relevant matches:

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

Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer.

DYSKERATOSIS CONGENITA Is also known as dkc|dc|dyskeratosis congenita, scoggins type|zinsser-engman-cole syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DYSKERATOSIS CONGENITA

Zimmermann-Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet.

ZIMMERMANN-LABAND SYNDROME Is also known as laband syndrome|gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome|fibromatosis, gingival, with abnormal fingers, fingernails, nose, and ears, and splenomegaly

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ZIMMERMANN-LABAND SYNDROME

Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability.

CARDIOFACIOCUTANEOUS SYNDROME Is also known as cfcs|cfc syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME

Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the whole body. These disorders are limited to skin, with approximately two-thirds of patients presenting severe symptoms. The main skin phenotypes are lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur (summary by Fischer, 2009). Neither histopathologic findings nor ultrastructural features clearly distinguish between NCIE and LI. In addition, mutations in several genes have been shown to cause both lamellar and nonbullous ichthyosiform erythrodermal phenotypes (Akiyama et al., 2003). At the First Ichthyosis Consensus Conference in Soreze in 2009, the term 'autosomal recessive congenital ichthyosis' (ARCI) was designated to encompass LI, NCIE, and harlequin ichthyosis (ARCI4B ) (Oji et al., 2010).NCIE is characterized by prominent erythroderma and fine white, superficial, semiadherent scales. Most patients present with collodion membrane at birth and have palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. In half of the cases, a nail dystrophy including ridging, subungual hyperkeratosis, or hypoplasia has been described. Ectropion, eclabium, scalp involvement, and loss of eyebrows and lashes seem to be more frequent in NCIE than in lamellar ichthyosis (summary by Fischer et al., 2000). In LI, the scales are large, adherent, dark, and pigmented with no skin erythema. Overlapping phenotypes may depend on the age of the patient and the region of the body. The terminal differentiation of the epidermis is perturbed in both forms, leading to a reduced barrier function and defects of lipid composition in the stratum corneum (summary by Lefevre et al., 2006).In later life, the skin in ARCI may have scales that cover the entire body surface, including the flexural folds, and the scales are highly variable in size and color. Erythema may be very mild and almost invisible. Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by Eckl et al., 2005).For a general phenotypic description and discussion of genetic heterogeneity of autosomal recessive congenital ichthyosis, see ARCI1 (OMIM ).

ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4A; ARCI4A Is also known as ichthyosis, lamellar, 2, formerly|ichthyosis congenita iib|li2, formerly|icr2b

Related symptoms:

  • Flexion contracture
  • Alopecia
  • Hyperkeratosis
  • Hepatosplenomegaly
  • Abnormality of the nervous system


SOURCES: OMIM MENDELIAN

More info about ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4A; ARCI4A

Medium match TANGIER DISEASE

Tangier disease (TD) is a rare lipoprotein metabolism disorder characterized biochemically by an almost complete absence of plasma high-density lipoproteins (HDL), and clinically by liver, spleen, lymph node and tonsil enlargement along with peripheral neuropathy in children and adolescents, and, occasionally, cardiovascular disease in adults.

TANGIER DISEASE Is also known as defective adenosine triphosphate-binding cassette transporter a1|analphalipoproteinemia|atp-binding cassette transporter a1 deficiency

Related symptoms:

  • Anemia
  • Thrombocytopenia
  • Abdominal pain
  • Hepatosplenomegaly
  • Distal muscle weakness


SOURCES: ORPHANET MENDELIAN

More info about TANGIER DISEASE

Poikiloderma with neutropenia is a rare, genetic hereditary poikiloderma disorder characterized by early-onset poikiloderma (which typically begins in the extremities, progresses centripetally and eventually involves the trunk, face and ears) associated with chronic neutropenia, recurrent infections, pachyonychia and palmoplantar keratoderma. Growth and/or develomental delay and hepato- and/or splenomegaly are additional reported features.

POIKILODERMA WITH NEUTROPENIA Is also known as poikiloderma with neutropenia, clericuzio type|poikiloderma with neutropenia, clericuzio-type

Related symptoms:

  • Short stature
  • Hypertelorism
  • Abnormal facial shape
  • Cataract
  • Depressed nasal bridge


SOURCES: ORPHANET OMIM MENDELIAN

More info about POIKILODERMA WITH NEUTROPENIA

Top 5 symptoms//phenotypes associated to Hepatomegaly and Nail dystrophy

Symptoms // Phenotype % cases
Alopecia Common - Between 50% and 80% cases
Splenomegaly Common - Between 50% and 80% cases
Cataract Common - Between 50% and 80% cases
Palmoplantar keratoderma Common - Between 50% and 80% cases
Hyperkeratosis Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Hepatosplenomegaly Dry skin Ectropion Short stature Neoplasm Ataxia Dystrophic fingernails Edema Hearing impairment Malabsorption Macrocephaly Anemia Seizures Erythema Thickened skin Blepharitis Hypotrichosis Thrombocytopenia Weight loss Scoliosis Hyperpigmentation of the skin Abnormality of skin pigmentation Global developmental delay Hyperhidrosis Carious teeth Abnormal blistering of the skin Abnormality of the fingernails Ichthyosis Abnormality of the dentition Abnormal facial shape

Rare Symptoms - Less than 30% cases

Abnormality of the testis Macrotia Large for gestational age Glossitis Patchy alopecia Umbilical hernia Clubbing Coarse facial features Furrowed tongue Polyhydramnios Peripheral axonal neuropathy Mandibular prognathia Myelodysplasia Aplasia/Hypoplasia of the eyebrow Cavernous hemangioma Posteriorly rotated ears Generalized hyperpigmentation Hyperextensibility of the finger joints Failure to thrive Decreased taste sensation Poor appetite Thick vermilion border Growth delay Recurrent respiratory infections Ridged nail Bulbous nose Abnormal eyebrow morphology Alopecia of scalp Sparse hair Leukemia Congestive heart failure Joint hypermobility Generalized ichthyosis Conjunctivitis Skin ulcer Inflammatory abnormality of the skin Irritability Hemangioma Cerebral cortical atrophy Subungual hyperkeratosis Strabismus Intellectual disability, severe Oral leukoplakia Respiratory tract infection Depressed nasal bridge Abnormal intestine morphology Abnormal eyelash morphology Frontal bossing Erythroderma Short nose Neoplasm of the skin High palate Scarring Lymphoma Muscular hypotonia Absent eyebrow Pruritus Skin rash Intellectual disability Immunodeficiency Generalized hypotonia Tremor Cutaneous T-cell lymphoma Hernia Myopia Abnormality of the nail Cardiomyopathy Nail dysplasia Anorexia Abdominal pain Lymphedema Diarrhea Neurofibromas Hypertelorism Vomiting Downslanted palpebral fissures Malar flattening Anonychia Decreased body weight Abnormality of the genitourinary system Sleep apnea Cerebral visual impairment Failure to thrive in infancy Relative macrocephaly Poor suck Cafe-au-lait spot Delayed gross motor development Hyperextensible skin Redundant skin Deep philtrum Aplasia/Hypoplasia of the corpus callosum Aspiration Narrow palate Sparse eyelashes Abnormality of vision Brittle hair Abnormal palate morphology Palmoplantar hyperkeratosis Cutis laxa Optic nerve hypoplasia Oculomotor apraxia Abdominal distention Open mouth Hypertrophic cardiomyopathy Hypermetropia Abnormality of the cerebral white matter Dolichocephaly Neurological speech impairment Pectus carinatum Abnormal cardiac septum morphology Feeding difficulties in infancy Abnormality of the kidney Abnormality of the eye Low-set, posteriorly rotated ears Telecanthus Aggressive behavior Genu valgum Hydronephrosis EEG abnormality Osteopenia Gastroesophageal reflux High forehead Proptosis Autism Prominent forehead Constipation Clinodactyly of the 5th finger Delayed skeletal maturation Pulmonic stenosis Astigmatism Hemiparesis Premature birth Myocardial infarction Fine hair Low posterior hairline Coarctation of aorta Cardiomegaly Narrow forehead Abnormality of the cardiovascular system Progressive visual loss Growth hormone deficiency Webbed neck Dental malocclusion Intestinal malrotation Long face Vesicoureteral reflux Nevus Full cheeks Abnormal bleeding Sparse eyebrow Sleep disturbance High, narrow palate Hepatic steatosis Retinal dystrophy Bruising susceptibility Falls Bilateral ptosis Abnormality of refraction Scaling skin Flexion contracture Distal muscle weakness Neuritis Eclabion Leukonychia Congenital nonbullous ichthyosiform erythroderma Abnormality of abdomen morphology Congenital ichthyosiform erythroderma Anhidrosis Paraplegia Spastic paraplegia Abnormality of the nervous system Oral aversion Hypertriglyceridemia Multiple plantar creases Eyelid fasciculation Multiple palmar creases Abnormality of the auditory canal Inappropriate crying Morphological abnormality of the gastrointestinal tract Puberty and gonadal disorders Abnormal location of ears Abnormality of the hairline Hyperkeratosis pilaris Tongue thrusting Corneal opacity Left ventricular hypertrophy Laryngeal cleft Cough Osteosarcoma Wheezing Atrophic scars Increased antibody level in blood Recurrent pneumonia Recurrent otitis media Cutaneous photosensitivity Eczema Otitis media Asthma Neutropenia Respiratory failure Syringomyelia Pneumonia Midface retrusion Orange discoloured tonsils Impaired thermal sensitivity Carotid artery stenosis Accelerated atherosclerosis Coronary artery stenosis Progressive peripheral neuropathy Chronic noninfectious lymphadenopathy Hypocholesterolemia Facial diplegia Functional abnormality of the gastrointestinal tract Hypoplasia of the frontal lobes Pleural effusion Abnormal heart valve morphology Hypoplasia of the zygomatic bone Absent eyelashes Enlarged kidney Arnold-Chiari type I malformation Atopic dermatitis Underdeveloped supraorbital ridges Anal stenosis Submucous cleft hard palate Curly hair Biparietal narrowing Multiple cafe-au-lait spots Long palpebral fissure Abnormality of the ulna Abnormality of the sternum Infantile spasms Neurodevelopmental delay Hydroureter Malnutrition Open bite Obsessive-compulsive behavior Heart murmur Chronic otitis media Cubitus valgus Melanocytic nevus Premature skin wrinkling Abnormality of the gastrointestinal tract Optic nerve dysplasia Abnormal aortic valve morphology Abnormal tricuspid valve morphology Abnormality of the optic disc Anterior creases of earlobe Frontal balding Endocarditis Increased nuchal translucency Sparse or absent eyelashes Multiple lentigines Abnormality of hair texture Excessive wrinkled skin Abnormality of the pulmonary artery Subvalvular aortic stenosis Short attention span Thickened helices Slow-growing hair Abnormal mitral valve morphology Gastrointestinal dysmotility Deep palmar crease Abnormal heart morphology Abnormal myocardium morphology Delayed CNS myelination Abnormality of the optic nerve Abnormal hair pattern Thick upper lip vermilion Woolly hair Inguinal hernia Accelerated skeletal maturation Encephalopathy Impaired T cell function Cerebellar hypoplasia Intrauterine growth retardation Microcephaly Increased serum zinc Low alkaline phosphatase Recurrent candida infections Paronychia Ridged fingernail Decreased testosterone in males Cheilitis Diabetes mellitus Corneal erosion Pustule Steatorrhea Emotional lability Psoriasiform dermatitis Chronic diarrhea Decreased testicular size Lethargy Photophobia Hypogonadism Osteoporosis Cirrhosis Gastrointestinal carcinoma Tracheoesophageal fistula Telangiectasia of the skin Aplasia/Hypoplasia of the skin Skin vesicle Macule Hypermelanotic macule Abnormality of coagulation Premature graying of hair Pulmonary fibrosis Epiphora Dermal atrophy Hepatic failure Hypopigmented skin patches Bone marrow hypocellularity Lymphopenia Hepatic fibrosis Pancytopenia Cerebral calcification Specific learning disability Hypoplasia of the maxilla Hypodontia Recurrent fractures Visual impairment Peripheral edema Premature loss of teeth Peripheral neuropathy T-cell lymphoma Lichenification Abnormality of the pleura Gangrene Irregular hyperpigmentation Abnormality of the face Lymphadenopathy Skeletal muscle atrophy Fever Steatocystoma multiplex Abnormal immunoglobulin level Abnormality of nail color Skin plaque Epidermoid cyst Thick nail Hamartoma Natal tooth Laryngomalacia Corneal dystrophy Abnormality of the hair Respiratory insufficiency Abnormal lymphocyte morphology Muscle weakness Hamartomatous polyposis Thromboembolism Stomach cancer Protein-losing enteropathy Intestinal polyposis Clubbing of fingers Dystrophic toenail Hematochezia Hypomagnesemia Abnormality of the vasculature Xerostomia Sparse body hair Pain Colon cancer Hypoplastic toenails Hypoalbuminemia Hypokalemia Cachexia Hypocalcemia Tapered finger Paresthesia Autoimmunity Fatigue Aseptic necrosis Neoplasm of the pancreas Pectus excavatum Colpocephaly Mesiodens Short distal phalanx of toe Prominent eyelashes Aortic arch aneurysm Everted upper lip vermilion Generalized hypertrichosis Biliary atresia Gingival fibromatosis Long penis Thin bony cortex Micrognathia Broad ribs Protruding tongue Aortic root aneurysm Pericardial effusion Metaphyseal widening Growth abnormality Spina bifida occulta Cognitive impairment Intellectual disability, progressive Hemivertebrae Nystagmus Cryptorchidism Gingival overgrowth Hydrocephalus Depressivity Abnormality of cardiovascular system morphology Cerebral atrophy Long philtrum Kyphosis Behavioral abnormality Hypertonia Blindness Atrial septal defect Short neck Ptosis Anteverted nares Ventriculomegaly Ventricular septal defect Dysphagia Optic atrophy Dysarthria Epicanthus Delayed speech and language development Feeding difficulties Low-set ears Generalized hirsutism Nephrolithiasis Taurodontia Aplastic/hypoplastic toenail Esophageal stenosis Palmar hyperkeratosis Displacement of the external urethral meatus Congenital bullous ichthyosiform erythroderma Anorectal anomaly Reticular hyperpigmentation Nail pits Rough bone trabeculation Porokeratosis Interstitial pneumonitis Sensorineural hearing impairment Abnormality of neutrophils Urethral stenosis Squamous cell carcinoma of the skin Abnormality of the pharynx Testicular atrophy Cellular immunodeficiency Abnormality of female internal genitalia Aplastic anemia White hair Periodontitis Absent lacrimal punctum Hypertension Hypertrichosis Thick eyebrow Thick lower lip vermilion Small nail Intellectual disability, profound Bilateral sensorineural hearing impairment Overgrowth Macroglossia Delayed eruption of teeth Hirsutism Short distal phalanx of finger Synophrys Brachydactyly Congenital cataract Broad forehead Wide mouth Protruding ear Dyspnea Polydactyly Patent ductus arteriosus Dilatation Abnormality of the skeletal system Wide nasal bridge Poikiloderma


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