Lymphoma, and Ichthyosis

Diseases related with Lymphoma and Ichthyosis

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

Top matches:

Low match BLOOM SYNDROME

Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer.

BLOOM SYNDROME Is also known as bls|microcephaly, growth restriction, and increased sister chromatid exchange 1|bs|bsyn|mgrisce1

Related symptoms:

  • Short stature
  • Microcephaly
  • Growth delay
  • Neoplasm
  • Failure to thrive


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BLOOM SYNDROME

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

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

Other less relevant matches:

Immunodeficiency-55 is an autosomal recessive primary immunodeficiency characterized by intrauterine growth retardation, natural killer (NK) cell deficiency, and chronic neutropenia. Most patients also have postnatal growth retardation. Other clinical manifestations include mild facial dysmorphism, dry or eczematous skin, and recurrent infections with both viruses and bacteria. The disorder appears to result from a defect in DNA replication causing blockade of immune cell differentiation in the bone marrow, particularly affecting NK cells (summary by Cottineau et al., 2017).

COMBINED IMMUNODEFICIENCY DUE TO GINS1 DEFICIENCY Is also known as cid due to gins1 deficiency|combined immunodeficiency with intrauterine growth retardation-natural killer cell deficiency-neutropenia|combined immunodeficiency with intrauterine growth retardation-nk cell deficiency-neutropenia

Related symptoms:

  • Growth delay
  • Abnormal facial shape
  • Anemia
  • Intrauterine growth retardation
  • Blindness


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO GINS1 DEFICIENCY

Syndromic recessive X-linked ichthyosis (RXLI) refers to the cases of RXLI (see this term) that are associated with extracutaneous manifestations as part of a syndrome.

SYNDROMIC RECESSIVE X-LINKED ICHTHYOSIS Is also known as recessive x-linked ichthyosis with extracutaneous manifestations|syndromic rxli

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about SYNDROMIC RECESSIVE X-LINKED ICHTHYOSIS

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

Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis (ARCI; see this term) characterized by the presence of large dark scales in specific areas of the body.

BATHING SUIT ICHTHYOSIS Is also known as bsi

Related symptoms:

  • Ichthyosis


SOURCES: ORPHANET MENDELIAN

More info about BATHING SUIT ICHTHYOSIS

Acral self-healing collodion baby (SHCB) is a variant of SHCB (see this term) characterized by the presence at birth of a collodion membrane only at the extremities.

ACRAL SELF-HEALING COLLODION BABY Is also known as acral shcb

Related symptoms:

  • Ichthyosis


SOURCES: ORPHANET MENDELIAN

More info about ACRAL SELF-HEALING COLLODION BABY

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

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 Lymphoma and Ichthyosis

Symptoms // Phenotype % cases
Short stature Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
Neoplasm Uncommon - Between 30% and 50% cases
Leukemia Uncommon - Between 30% and 50% cases
Hepatomegaly Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Anemia Hyperkeratosis Global developmental delay Immunodeficiency Erythema Thrombocytopenia Splenomegaly Acute leukemia Edema Respiratory tract infection Hypopigmented skin patches Bone marrow hypocellularity Alopecia Myelodysplasia Specific learning disability Dry skin Scoliosis Skin rash Malabsorption Pruritus Recurrent infections Intrauterine growth retardation Eczema Abnormality of the dentition Delayed skeletal maturation Lymphadenopathy Diarrhea Cryptorchidism Intellectual disability Hyperhidrosis Failure to thrive

Rare Symptoms - Less than 30% cases

Neutropenia Abnormality of skin pigmentation Cirrhosis Microcephaly Palmoplantar keratoderma Leukopenia Osteoporosis Carious teeth Nail dystrophy Erythroderma Blindness Cataract Ataxia Recurrent fractures Pancytopenia Abnormal blistering of the skin Abnormal eyelash morphology Gastroesophageal reflux Pectus carinatum Aplastic anemia Abnormality of the testis Seizures Generalized hypotonia Hypotrichosis Cutaneous T-cell lymphoma Osteopenia Neurofibromas Hypermelanotic macule Neoplasm of the skin Abnormal intestine morphology Autism Lymphopenia Skin ulcer Hyperpigmentation of the skin Hearing impairment Sparse hair Dolichocephaly Inflammatory abnormality of the skin Postnatal growth retardation Bronchiectasis Diabetes mellitus Telangiectasia Cafe-au-lait spot Recurrent respiratory infections Clinodactyly of the 5th finger Pulmonary fibrosis Telangiectasia of the skin Myeloid leukemia Acute myeloid leukemia Abnormality of the nail Hypoplasia of the zygomatic bone Atopic dermatitis Intellectual disability, mild Short nose Micrognathia Cardiomyopathy Malar flattening Generalized ichthyosis Melanocytic nevus Abnormality of the hairline Hyperkeratosis pilaris Chronic otitis media Tongue thrusting Functional abnormality of the gastrointestinal tract Laryngeal cleft Endocarditis Cubitus valgus Hypoplasia of the frontal lobes Optic nerve dysplasia Abnormal location of ears Abnormal tricuspid valve morphology Frontal balding Abnormality of the optic disc Anterior creases of earlobe Patchy alopecia Recurrent skin infections Autoimmune hemolytic anemia Multiple palmar creases Respiratory failure Abnormal facial shape Oral aversion Hypothyroidism Hemolytic anemia Multiple plantar creases Eyelid fasciculation Abnormality of the auditory canal Glaucoma Inappropriate crying Scaling skin Increased nuchal translucency Morphological abnormality of the gastrointestinal tract Puberty and gonadal disorders Pleural effusion Ectropion Abnormal lung morphology Premature skin wrinkling Abnormality of hair texture Heart murmur Abnormal hair pattern Delayed CNS myelination Abnormality of the optic nerve Dystrophic fingernails Abnormal heart valve morphology Multiple cafe-au-lait spots Biparietal narrowing Curly hair Generalized hyperpigmentation Submucous cleft hard palate Anal stenosis Long palpebral fissure Underdeveloped supraorbital ridges Poor appetite Alopecia of scalp Arnold-Chiari type I malformation Enlarged kidney Absent eyelashes Thick upper lip vermilion Woolly hair Short attention span Abnormality of the gastrointestinal tract Abnormal myocardium morphology Abnormality of the sternum Obsessive-compulsive behavior Abnormal aortic valve morphology Sparse or absent eyelashes Multiple lentigines Absent eyebrow Cavernous hemangioma Abnormality of the ulna Large for gestational age Excessive wrinkled skin Open bite Abnormality of the pulmonary artery Hyperextensibility of the finger joints Malnutrition Abnormality of refraction Hydroureter Subvalvular aortic stenosis Thickened helices Slow-growing hair Abnormal mitral valve morphology Aplasia/Hypoplasia of the eyebrow Gastrointestinal dysmotility Neurodevelopmental delay Deep palmar crease Infantile spasms Severe intrauterine growth retardation Hypotension Osteosarcoma Sepsis Metaphyseal widening Coxa vara Recurrent bacterial infections Nephrocalcinosis Type I diabetes mellitus Short ribs Decreased liver function Abnormality of the metaphysis Apraxia Microdontia Generalized muscle weakness Short thorax Narrow chest Small for gestational age Elevated hepatic transaminase Skeletal dysplasia Respiratory distress Abnormality of the skeletal system Gait disturbance Telangiectasia macularis eruptiva perstans Chronic leukemia Anaphylactic shock Cutaneous mastocytosis Neonatal respiratory distress Steatorrhea Mastocytosis Myocardial necrosis Skin plaque T-cell lymphoma Abnormality of bone marrow cell morphology Poikiloderma Abnormal eyelid morphology Irregular hyperpigmentation Psoriasiform dermatitis Irregular ossification at anterior rib ends Narrow sacroiliac notch Proximal femoral epiphysiolysis Metaphyseal dysostosis Proximal femoral metaphyseal irregularity Multiple lipomas Enlargement of the costochondral junction Paroxysmal nocturnal hemoglobinuria Persistence of hemoglobin F Metaphyseal sclerosis Anterior rib cupping Metaphyseal chondrodysplasia Recurrent aphthous stomatitis Acute monocytic leukemia Recurrent viral infections Ovoid vertebral bodies Exocrine pancreatic insufficiency Dermatographic urticaria Abnormality of the gastric mucosa Protein-losing enteropathy Abnormality of the stomach Hepatosplenomegaly Arthralgia Weight loss Abdominal pain Arrhythmia Headache Fatigue Hypertension Pain Testicular seminoma Abdominal wall defect Papule Abnormality of the abdominal wall Dysphasia Unilateral renal agenesis Lissencephaly Hypohidrosis Corneal opacity Attention deficit hyperactivity disorder Hypogonadism Renal insufficiency Erythroid dysplasia Folliculitis Myalgia Nausea and vomiting Food intolerance Loss of consciousness Abnormal eosinophil morphology Impaired temperature sensation Asthenia Immunologic hypersensitivity Gastrointestinal stroma tumor Hypersplenism Myeloproliferative disorder Generalized osteosclerosis Allergy Flushing Abnormality of blood and blood-forming tissues Portal hypertension Nausea Urticaria Sarcoma Shock Osteolysis Bone pain Bilateral ptosis Gastrointestinal hemorrhage Asthma Sudden cardiac death Ascites Tachycardia Sparse eyebrow Nevus Failure to thrive in infancy White hair Interstitial pneumonitis Abnormality of neutrophils Urethral stenosis Squamous cell carcinoma of the skin Abnormality of the pharynx Testicular atrophy Cellular immunodeficiency Abnormality of female internal genitalia Ridged nail Oral leukoplakia Periodontitis Porokeratosis Taurodontia Abnormal eyebrow morphology Neoplasm of the pancreas Blepharitis Premature loss of teeth Aseptic necrosis Aplasia/Hypoplasia of the skin Skin vesicle Macule Abnormality of coagulation Aplastic/hypoplastic toenail Rough bone trabeculation Epiphora Ptosis Optic atrophy Macrocephaly Myopia Dysarthria Epicanthus Depressed nasal bridge Delayed speech and language development Feeding difficulties High palate Low-set ears Muscular hypotonia Nail pits Strabismus Nystagmus Hypertelorism Absent lacrimal punctum Esophageal stenosis Palmar hyperkeratosis Displacement of the external urethral meatus Congenital bullous ichthyosiform erythroderma Anorectal anomaly Reticular hyperpigmentation Premature graying of hair Tracheoesophageal fistula Frontal bossing Type II diabetes mellitus Squamous cell carcinoma Hand polydactyly Reduced number of teeth Sacral dimple Azoospermia Narrow face Sinusitis Abnormality of the face Hypertrichosis Cutaneous photosensitivity Otitis media IgA deficiency Abnormality of the skin Prominent nose Decreased antibody level in blood Infertility Finger syndactyly Protruding ear Polydactyly Severe short stature Pneumonia Syndactyly High pitched voice Hodgkin lymphoma Dermal atrophy Neoplasm of the gastrointestinal tract Abnormality of the fingernails Hepatic fibrosis Cerebral calcification Nail dysplasia Hypoplasia of the maxilla Hypodontia Hepatic failure Cerebellar hypoplasia Facial telangiectasia in butterfly midface distribution Agenesis of maxillary lateral incisor Spotty hyperpigmentation IgG deficiency Spotty hypopigmentation Female infertility Decreased fertility in females Abnormality of chromosome stability IgM deficiency Abnormality of the nose Chronic obstructive pulmonary disease Chronic lung disease Hypoplastic pelvis Chromosome breakage Downslanted palpebral fissures Dysphagia Brittle hair Premature birth 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 Hemiparesis Vesicoureteral reflux Full cheeks Abnormal bleeding Abdominal distention Sleep disturbance High, narrow palate Hepatic steatosis Thick vermilion border Retinal dystrophy Bruising susceptibility Myocardial infarction Open mouth Falls Sleep apnea Redundant skin Deep philtrum Hyperextensible skin Poor suck Relative macrocephaly Abnormality of vision Palmoplantar hyperkeratosis Optic nerve hypoplasia Delayed gross motor development Abnormality of the genitourinary system Hemangioma Decreased body weight Aplasia/Hypoplasia of the corpus callosum Abnormal palate morphology Cutis laxa Oculomotor apraxia Sparse eyelashes Narrow palate Aspiration Cerebral visual impairment Lymphedema Thickened skin Bulbous nose Joint hypermobility Ventricular septal defect Long philtrum Posteriorly rotated ears Constipation Inguinal hernia Abnormal heart morphology Encephalopathy Pectus excavatum Depressivity Hernia Abnormality of cardiovascular system morphology Cerebral atrophy Kyphosis Cerebral cortical atrophy Behavioral abnormality Congestive heart failure Hypertonia Vomiting Intellectual disability, severe Atrial septal defect Hydrocephalus Short neck Anteverted nares Ventriculomegaly Prominent forehead Proptosis Long face Feeding difficulties in infancy Peripheral axonal neuropathy Astigmatism Genu valgum Pulmonic stenosis Hypermetropia Abnormality of the cerebral white matter Neurological speech impairment Abnormal cardiac septum morphology Scarring Irritability Abnormality of the kidney Polyhydramnios Abnormality of the eye Low-set, posteriorly rotated ears Telecanthus Hypertrophic cardiomyopathy Aggressive behavior Hydronephrosis EEG abnormality Umbilical hernia Coarse facial features Macrotia High forehead Abnormal lymphocyte morphology


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