Hepatomegaly, and Palmoplantar keratoderma

Diseases related with Hepatomegaly and Palmoplantar keratoderma

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


Top matches:

Medium match PACHYONYCHIA CONGENITA


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

Medium match PALMOPLANTAR KERATODERMA-ESOPHAGEAL CARCINOMA SYNDROME


Palmoplantar keratoderma (PPK) is a complex group of hereditary syndromes that have been classified into diffuse, punctate, and focal forms according to the pattern of hyperkeratosis on the palms and soles (Lucker et al., 1994).For a discussion of phenotypic and genetic heterogeneity of palmoplantar keratoderma, see epidermolytic PPK (OMIM ).

PALMOPLANTAR KERATODERMA-ESOPHAGEAL CARCINOMA SYNDROME Is also known as howell-evans syndrome|keratosis palmaris et plantaris with esophageal cancer|palmoplantar hyperkeratosis-esophageal carcinoma syndrome|palmoplantar keratoderma with esophageal cancer|tylosis-oesophageal carcinoma syndrome|bennion-patterson syndrome|kerato

Related symptoms:

  • Neoplasm
  • Hepatomegaly
  • Dysphagia
  • Edema
  • Hernia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about PALMOPLANTAR KERATODERMA-ESOPHAGEAL CARCINOMA SYNDROME

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

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Other less relevant matches:

Medium match PACHYDERMOPERIOSTOSIS


Pachydermoperiostosis (PDP) is a form of primary hypertrophic osteoarthropathy (see this term), a rare hereditary disorder, and is characterized by digital clubbing, pachydermia and subperiosteal new bone formation associated with pain, polyarthritis, cutis verticis gyrata, seborrhea and hyperhidrosis. Three forms have been described: a complete form with pachydermia and periostitis, an incomplete form with evidence of bone abnormalities but lacking pachydermia, and a forme frusta with prominent pachydermia and minimal-to-absent skeletal changes.

PACHYDERMOPERIOSTOSIS Is also known as touraine-solente-gole syndrome|pdp

Related symptoms:

  • Scoliosis
  • Ptosis
  • Anemia
  • Hepatomegaly
  • Edema


SOURCES: ORPHANET MENDELIAN

More info about PACHYDERMOPERIOSTOSIS

Medium match PROLIDASE DEFICIENCY


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

Medium match DYSKERATOSIS CONGENITA


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

Medium match CARDIOFACIOCUTANEOUS 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

Medium match ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4A; ARCI4A


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 POIKILODERMA WITH NEUTROPENIA


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

Medium match CLASSIC MYCOSIS FUNGOIDES


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

Top 5 symptoms//phenotypes associated to Hepatomegaly and Palmoplantar keratoderma

Symptoms // Phenotype % cases
Hyperkeratosis Common - Between 50% and 80% cases
Alopecia Common - Between 50% and 80% cases
Splenomegaly Common - Between 50% and 80% cases
Nail dystrophy Common - Between 50% and 80% cases
Edema Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Cataract Abnormality of the fingernails Neoplasm Skin rash Pruritus Erythema Dry skin Thickened skin Neoplasm of the skin Carious teeth Hyperhidrosis Erythroderma Thrombocytopenia Malar flattening Short nose Depressed nasal bridge Cutaneous T-cell lymphoma Hypertelorism Lymphoma Hearing impairment Global developmental delay Scoliosis Anemia Hepatosplenomegaly Ectropion Hypotrichosis Ptosis Abnormal facial shape Recurrent respiratory infections Oral leukoplakia Short stature Abnormality of the dentition Ichthyosis Skin ulcer Abnormality of the nail

Rare Symptoms - Less than 30% cases


Genu valgum Recurrent pneumonia Osteomyelitis Malabsorption Ataxia Osteoporosis Hyperpigmentation of the skin Aplasia/Hypoplasia of the skin Psoriasiform dermatitis Increased antibody level in blood Abnormal hair pattern Hypoplasia of the zygomatic bone Abnormality of skin pigmentation Leukemia Sparse hair Absent eyebrow Aseptic necrosis Abnormality of bone marrow cell morphology Abnormality of the testis Intellectual disability, severe Proptosis Prominent forehead Asthma T-cell lymphoma Neurofibromas Myelodysplasia Low posterior hairline Cutaneous photosensitivity Vomiting Downslanted palpebral fissures High forehead Inflammatory abnormality of the skin Abnormal eyelash morphology Delayed speech and language development High palate Micrognathia Hypopigmented skin patches Lymphedema Intellectual disability Blepharitis Abnormal lymphocyte morphology Coarse facial features Growth delay Poor appetite Gastrointestinal hemorrhage Weight loss Skin plaque Clubbing of toes Gastroesophageal reflux Eczema Scarring Frontal bossing Respiratory tract infection Dysphagia Hernia Immunodeficiency Lymphadenopathy Generalized ichthyosis Poikiloderma Subungual hyperkeratosis Abnormal blistering of the skin Palmoplantar hyperkeratosis Irregular hyperpigmentation Poor suck Sleep apnea Oculomotor apraxia Aggressive behavior Hemangioma Telecanthus Aplasia/Hypoplasia of the corpus callosum Hypertrophic cardiomyopathy Low-set, posteriorly rotated ears Cutis laxa Abnormal palate morphology Optic nerve hypoplasia Abnormality of the genitourinary system Failure to thrive in infancy Cubitus valgus Melanocytic nevus Pleural effusion Posteriorly rotated ears Cerebral cortical atrophy Autism Scaling skin Sparse eyebrow Polyhydramnios Bilateral ptosis Macrotia Delayed gross motor development Brittle hair Redundant skin Deep philtrum Osteopenia Hyperextensible skin Relative macrocephaly Umbilical hernia Abnormality of vision EEG abnormality Hydronephrosis Sparse eyelashes Sleep disturbance Abnormality of the eye Intestinal malrotation Falls Bulbous nose Abnormality of the cardiovascular system Progressive visual loss Growth hormone deficiency Webbed neck Dental malocclusion Premature birth Vesicoureteral reflux Cardiomegaly Nevus Bruising susceptibility Full cheeks Retinal dystrophy Abnormal bleeding Thick vermilion border Hepatic steatosis Abdominal distention High, narrow palate Narrow forehead Coarctation of aorta Abnormality of the kidney Abnormality of the cerebral white matter Narrow palate Feeding difficulties in infancy Cerebral visual impairment Cafe-au-lait spot Irritability Abnormal cardiac septum morphology Pectus carinatum Neurological speech impairment Dolichocephaly Hypermetropia Joint hypermobility Pulmonic stenosis Astigmatism Decreased body weight Peripheral axonal neuropathy Open mouth Hemiparesis Myocardial infarction Fine hair Long face Aspiration Woolly hair Chronic otitis media Hyperkeratosis pilaris 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 Tongue thrusting Flexion contracture Functional abnormality of the gastrointestinal tract Laryngeal cleft Hypoplasia of the frontal lobes Optic nerve dysplasia Patchy alopecia Abnormal tricuspid valve morphology Abnormality of the optic disc Anterior creases of earlobe Frontal balding Oral aversion Abnormality of the nervous system Increased nuchal translucency Respiratory failure Osteosarcoma Wheezing Atrophic scars Conjunctivitis Recurrent otitis media Otitis media Neutropenia Cough Mandibular prognathia Pneumonia Spastic paraplegia Midface retrusion Neuritis Eclabion Leukonychia Congenital nonbullous ichthyosiform erythroderma Abnormality of abdomen morphology Congenital ichthyosiform erythroderma Anhidrosis Clubbing Paraplegia Endocarditis Sparse or absent eyelashes Heart murmur Multiple cafe-au-lait spots Arnold-Chiari type I malformation Alopecia of scalp Atopic dermatitis Underdeveloped supraorbital ridges Anal stenosis Submucous cleft hard palate Generalized hyperpigmentation Curly hair Biparietal narrowing Abnormal heart valve morphology Absent eyelashes Long palpebral fissure Abnormality of the sternum Infantile spasms Neurodevelopmental delay Aplasia/Hypoplasia of the eyebrow Hydroureter Malnutrition Open bite Large for gestational age Obsessive-compulsive behavior Enlarged kidney Premature skin wrinkling Multiple lentigines Abnormal mitral valve morphology Cavernous hemangioma Abnormality of hair texture Excessive wrinkled skin Abnormality of the pulmonary artery Hyperextensibility of the finger joints Abnormal aortic valve morphology Subvalvular aortic stenosis Thickened helices Slow-growing hair Gastrointestinal dysmotility Abnormality of the ulna Deep palmar crease Abnormality of refraction Abnormal myocardium morphology Delayed CNS myelination Abnormality of the optic nerve Dystrophic fingernails Thick upper lip vermilion Clinodactyly of the 5th finger Short attention span Abnormality of the gastrointestinal tract Constipation Urethral stenosis Delayed skeletal maturation Abnormal cortical bone morphology Intellectual disability, mild Diarrhea Visual impairment Impaired temperature sensation Cutis gyrata of scalp Eczematoid dermatitis Abnormal hair quantity Peptic ulcer Seborrheic dermatitis Neoplasm of the lung Abnormality of metabolism/homeostasis Growth hormone excess Joint swelling Acne Genu varum Cerebral palsy Osteolysis Gynecomastia Bone pain Abnormality of epiphysis morphology Recurrent infections Obesity Small hand Low anterior hairline Prolonged neonatal jaundice Abnormality of the immune system Abnormality of the hip bone Elevated erythrocyte sedimentation rate Petechiae Systemic lupus erythematosus Reduced bone mineral density Generalized hirsutism Bilateral single transverse palmar creases Abnormality of retinal pigmentation Elevated hepatic transaminase Abnormal lung morphology Thin skin Depressed nasal ridge Hepatitis Dehydration Convex nasal ridge Hirsutism Arachnodactyly Papule Limitation of joint mobility Arthritis Concave nasal ridge Steatocystoma multiplex Parakeratosis Squamous cell carcinoma Oral-pharyngeal dysphagia Epidermal acanthosis Ectodermal dysplasia Ascites Postural instability Nausea and vomiting Carcinoma Abnormality of nail color Hiatus hernia Epidermoid cyst Thick nail Hamartoma Natal tooth Anonychia Laryngomalacia Corneal dystrophy Abnormality of the hair Respiratory insufficiency Abnormality of the mouth Esophagitis Arthralgia Esophageal leukoplakia Abnormal immunoglobulin level Lichenification Abnormality of the pleura Gangrene Abnormality of the face Tremor Skeletal muscle atrophy Fever Peripheral neuropathy Abnormal large intestine morphology Follicular hyperkeratosis Abnormality of esophagus physiology Esophageal carcinoma Esophageal neoplasm Diffuse palmoplantar hyperkeratosis Abnormality of the mediastinum Plantar hyperkeratosis Esophageal stricture Stomach cancer Hypergranulosis Chronic lung disease White forelock Inguinal hernia Absent lacrimal punctum Feeding difficulties Low-set ears Cryptorchidism Muscular hypotonia Strabismus Failure to thrive Nystagmus Generalized hypotonia Seizures Esophageal stenosis Dysarthria Palmar hyperkeratosis Displacement of the external urethral meatus Congenital bullous ichthyosiform erythroderma Anorectal anomaly Reticular hyperpigmentation Nail pits Rough bone trabeculation Porokeratosis Aplastic/hypoplastic toenail Epicanthus Myopia Abnormality of neutrophils Congestive heart failure Abnormal heart morphology Encephalopathy Pectus excavatum Depressivity Abnormality of cardiovascular system morphology Cerebral atrophy Long philtrum Kyphosis Behavioral abnormality Hypertonia Macrocephaly Blindness Atrial septal defect Cardiomyopathy Hydrocephalus Short neck Anteverted nares Ventriculomegaly Ventricular septal defect Optic atrophy Interstitial pneumonitis Cognitive impairment Abnormality of the middle ear Hepatic failure Lymphopenia Hepatic fibrosis Pancytopenia Cerebral calcification Specific learning disability Nail dysplasia Hypoplasia of the maxilla Hypodontia Recurrent fractures Cirrhosis Abnormal intestine morphology Diabetes mellitus Cerebellar hypoplasia Intrauterine growth retardation Microcephaly Recurrent cystitis Diffuse telangiectasia Crusting erythematous dermatitis Facial hirsutism Poliosis Bone marrow hypocellularity Dermal atrophy Squamous cell carcinoma of the skin Abnormal eyebrow morphology Abnormality of the pharynx Testicular atrophy Cellular immunodeficiency Abnormality of female internal genitalia Ridged nail Aplastic anemia White hair Periodontitis Taurodontia Neoplasm of the pancreas Tracheoesophageal fistula Premature loss of teeth Telangiectasia of the skin Skin vesicle Macule Hypermelanotic macule Abnormality of coagulation Premature graying of hair Pulmonary fibrosis Epiphora Abnormal eyelid morphology



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