196
(70.9%)

Juvenile myelomonocytic leukemia

Fever Hemolytic anemia Hepatosplenomegaly Splenomegaly

Autosomal dominant inheritance Somatic mutation

196
(70.9%)

Acute megakaryoblastic leukemia

Anemia Fever Hepatosplenomegaly Splenomegaly

A rare acute myeloid leukemia that occurs predominantly in childhood and particularly in children with Down syndrome (DS-AMKL). Nonspecific symptoms may be irritability, weakness, and dizziness while specific symptoms include pallor, fever, mucocutaneous bleeding, hepatosplenomegaly, neurological manifestations and rarely lymphadenopathy. Acute panmyelosis with myelofibrosis may also be associated with AMKL. In contrast to DS-AMKL (around 80 % survival), non-DS-AMKL is an AML subgroup associated with poor prognosis.

196
(70.9%)

Majeed syndrome

Congenital hypoplastic anemia Hepatomegaly Proteinuria Splenomegaly

Autosomal recessive inheritance

Majeed syndrome is a rare genetic multisystemic disorder characterized by chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, which may be accompanied by neutrophilic dermatosis.

196
(70.9%)

Plasma cell leukemia

Anemia Hepatosplenomegaly Hyperammonemia Splenomegaly

196
(70.9%)

Cronkhite-Canada syndrome

Anemia Hepatomegaly Lymphedema Splenomegaly

Sporadic

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.

196
(70.9%)

Whipple disease

Anemia Hepatomegaly Insulin resistance Splenomegaly

Whipple's disease (WD) is a chronic infectious disorder in which almost all organ systems can be invaded by the rod-shaped bacterium Tropheryma whipplei (T. whipplei).

196
(70.9%)

Mucopolysaccharidosis type 2

Hemolytic anemia Hepatic fibrosis Mucopolysacchariduria Splenomegaly

X-linked recessive inheritance

A lysosomal storage disease with multisystemic involvement leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe form with neurodegeneration to an attenuated form without neuronal involvement.

196
(70.9%)

Pachydermoperiostosis

Anemia Edema Hepatomegaly Splenomegaly

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.

209
(70.8%)

Drug-induced autoimmune hemolytic anemia

Autoimmune hemolytic anemia Increased total bilirubin Pallor Splenomegaly

Drug-induced autoimmune hemolytic anemia is a type of autoimmune hemolytic anemia (AIHA; see this term) that occurs as a reaction to therapeutic drugs, and can be due to various mechanisms.

209
(70.8%)

Intravascular large B-cell lymphoma

Hemolytic anemia Proteinuria Splenomegaly Subcutaneous nodule

Intravascular large B-cell lymphoma (IVLBCL) is a very rare form of diffuse large B-cell lymphoma (see this term) characterized by the selective growth of lymphoma cells within the lumina of small blood vessels (especially the capillaries) that most often presents with a wide range of clinical manifestations (as potentially any tissue can be involved), with patients from Western countries more frequently manifesting with neurological and cutaneous symptoms while patients from Asian countries more frequently displaying hepatosplenomegaly and thrombocytopenia. IVLBCL is characterized by an absence of lymphadenopathy, an aggressive clinical course and a poor prognosis.

211
(70.6%)

Transaldolase deficiency

Anemia Hepatosplenomegaly Proteinuria Telangiectasia

Autosomal recessive inheritance

Transaldolase deficiency is an inborn error of the pentose phosphate pathway that presents in the neonatal or antenatal period with hydrops fetalis, hepatosplenomegaly, hepatic dysfunction, thrombocytopenia, anemia, and renal and cardiac abnormalities.

211
(70.6%)

T-cell prolymphocytic leukemia

Anemia Erythema Fever Hepatosplenomegaly

211
(70.6%)

H syndrome

Diabetes mellitus Facial telangiectasia Hepatosplenomegaly Microcytic anemia

Autosomal recessive inheritance

A rare cutaneous disease and a systemic inherited histiocytosis mainly characterized by hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, it is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML). Some cases of dysosteosclerosis may also represent the syndrome.

211
(70.6%)

Congenital syphilis

Anemia Erythema Hepatosplenomegaly Joint swelling

211
(70.6%)

Maculopapular cutaneous mastocytosis

Anemia Fever Hepatosplenomegaly Urticaria

Maculopapular cutaneous mastocytosis (MCM) is a form of cutaneous mastocytosis (CM; see this term) characterized by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin.

211
(70.6%)

Thymic carcinoma

Anemia Edema Hepatosplenomegaly Purpura

Thymic carcinoma (TC) is a type of thymic epithelial neoplasm (see this term) characterized by a high malignant potential.

211
(70.6%)

Bullous pemphigoid

Hemolytic anemia Hepatosplenomegaly Proteinuria Purpura

Bullous pemphigoid (BP) is the most common form of autoimmune bullous dermatosis.

211
(70.6%)

Ataxia-telangiectasia

Anemia Diabetes mellitus Hepatosplenomegaly Purpura

Autosomal recessive inheritance

A rare disorder characterized by the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterized by neurological signs, telangiectasia, increased susceptibility to infections and a higher risk of cancer.

211
(70.6%)

Acute promyelocytic leukemia

Anemia Hematuria Hepatosplenomegaly Petechiae

Somatic mutation

An aggressive form of acute myeloid leukemia (AML), characterized by arrest of leukocyte differentiation at the promyelocyte stage, due to a specific chromosomal translocation t(15;17) in myeloid cells, and manifests with easy bruising, hemorrhagic diathesis and fatigue.

220
(70.5%)

Thrombotic thrombocytopenic purpura

Cholecystitis Hemolytic anemia Schistocytosis Vitamin B12 deficiency

Thrombotic thrombocytopenic purpura (TTP) is an aggressive and life-threatening form of thrombotic microangiopathy (TMA; see this term) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and organ failure of variable severity and is comprised of congenital TTP and acquired TTP (see these terms).

221
(70.4%)

Aregenerative anemia

Fever Increased hemoglobin Jaundice Recurrent tonsillitis

222
(70.3%)

MELAS

Acanthocytosis Pancreatitis Proteinuria Spontaneous hematomas

Mitochondrial inheritance

MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations.

223
(70.3%)

Ileal neuroendocrine tumor

Dermatological manifestations of systemic disorders Edema Iron deficiency anemia Lymphadenopathy

Ileal neuroendocrine tumor is a rare, primary, malignant, epithelial neoplasm of the small intestine arising from enterochromaffin cells in the ileum (usually the terminal ileum). Clinical behavior depends on the histologic grade, but initially it is generally characterized by vague abdominal symptoms (cramping, bloating, diarrhea) with insidious onset, although sometimes it could present with signs of bowel obstruction/perforation or gastrointestinal bleeding. Diagnosis in advanced stages with regional or distant spread is common, but signs of carcinoid syndrome (flushing, sweating, diarrhea) are usually not apparent until hepatic metastasis has occurred.

223
(70.3%)

Whooping cough

Cyanosis Edema Hemolytic anemia Lymphadenitis

225
(70.0%)

Listeriosis

Anemia Cholestasis Fever Lymphadenopathy

225
(70.0%)

Giant cell arteritis

Anemia Cholestasis Facial edema Lymphadenopathy

Autosomal dominant inheritance Multifactorial inheritance

Giant cell arteritis (GCA) is a large vessel vasculitis predominantly involving the arteries originating from the aortic arch and especially the extracranial branches of the carotid arteries.

227
(70.0%)

Beckwith-Wiedemann syndrome

Hepatosplenomegaly Hyperinsulinemic hypoglycemia Polycythemia Splenomegaly

Autosomal dominant inheritance

Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations.

228
(69.9%)

Cystinuria

Abnormality of amino acid metabolism Anemia Ascites Jaundice

Autosomal dominant inheritance Autosomal recessive inheritance

Cystinuria is a renal tubular amino acid transport disorder characterized by recurrent formation of kidneys cystine stones.

229
(69.7%)

Stormorken-Sjaastad-Langslet syndrome

Anemia Asplenia Hypocalcemia Purpura

Autosomal dominant inheritance

Stormorken-Sjaastad-Langslet syndrome is characterized by thrombocytopathy, asplenia, miosis, muscle fatigue, migraine, dyslexia, and ichthyosis. It has been described in six members of one family. It is transmitted as an autosomal dominant trait.

229
(69.7%)

Pneumococcal meningitis

Anemia Asplenia Diabetes mellitus Purpura

229
(69.7%)

Sweet syndrome

Anemia Edema Petechiae Splenic abscess

Sweet's syndrome (the eponym for acute febrile neutrophilic dermatosis) is characterized by a constellation of clinical symptoms, physical features, and pathologic findings which include fever, neutrophilia, tender erythematous skin lesions (papules, nodules, and plaques), and a diffuse infiltrate consisting predominantly of mature neutrophils that are typically located in the upper dermis.

229
(69.7%)

Acute monoblastic leukemia

Edema Facial erythema Hemolytic anemia Splenic rupture

Acute monoblastic leukemia (AML-M5), is one of the most common subtypes of acute myeloid leukemia (AML; see this term) that is either comprised of more than 80% of monoblasts (AML-M5a) or 30-80% monoblasts with (pro)monocytic differentiation (AML-M5b). AML-M5 presents with asthenia, pallor, fever, and dizziness. Specific features of AML-M5 include hyperleukocytosis, propensity for extramedullary infiltrates, coagulation abnormalities including disseminated intravascular coagulation and neurological disorders. Leukemia cutis and gingival infiltration can also be seen. A characteristic translocation observed in AML-M5 is t(9;11).

229
(69.7%)

Relapsing polychondritis

Hemolytic anemia Proteinuria Purpura Splenic abscess

Relapsing polychondritis (RP) is a rare, clinically heterogeneous, multisystemic inflammatory disease characterized by inflammation of the cartilage and proteoglycan rich structures leading to cartilage damage with joint, ocular and cardiovascular involvement.

234
(69.6%)

Oroya fever

Fever Hemolytic anemia Splenomegaly

234
(69.6%)

Diffuse lymphatic malformation

Anemia Pleural effusion Splenomegaly

234
(69.6%)

Hairy cell leukemia variant

Anemia Paraproteinemia Splenomegaly

Hairy Cell Leukemia variant (HCL-V) is defined as a rare and indolent form of small, mature, B-cell leukemia characterized by splenomegaly, an elevated white blood cell (WBC) count and hyper-cellular bone marrow. HCL-V is more aggressive and resistant to therapy than classical HCL (HCL-C) (see this term).

234
(69.6%)

Hereditary orotic aciduria

Anemia Oroticaciduria Splenomegaly

Autosomal recessive inheritance

A rare autosomal recessive disorder characterized by retarded growth, anemia and excessive urinary excretion of orotic acid. It is due to a severe deficiency in the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase (bifunctional enzyme containing two activities: orotate phosphoribosyltransferase and orotidine 5'-monophosphate decarboxylase), coded by a single gene (UMPS) localized to chromosome 3q13.

234
(69.6%)

Ataxia-pancytopenia syndrome

Decreased circulating antibody level Hypoplastic anemia Splenomegaly

Autosomal dominant inheritance

A rare genetic disease characterized by cerebellar ataxia, cytopenias and predisposition to bone marrow failure and myeloid leukaemia. Neurologic features variably include slowly progressive cerebellar ataxia or balance impairment with cerebellar atrophy and periventricular white matter T2 hyperintensities in brain MRI, horizontal and vertical nystagmus, dysmetria, dysarthria, pyramidal tract signs and reduced nerve conduction velocity. Hematological abnormalities are variable and may be intermittent and include cytopenias of all cell lineages, immunodeficiency, myelodysplasia and acute myeloid leukemia.

234
(69.6%)

Classic hairy cell leukemia

Anemia Fever Splenomegaly

Hairy cell leukemia (HCL) is a rare type of leukemia in which abnormal B-lymphocytes are present in the bone marrow, spleen and peripheral blood. It is a slowly progressive chronic lymphocytic leukemia (CLL). The name comes from the abnormally shaped lymphocytes with hair-like projections.

240
(69.4%)

Argyria

Cyanosis Diabetes mellitus Lymphadenopathy Methemoglobinemia

A rare dermatosis, which can be either localized or systemic, that occurs after prolonged contact and absorption of silver containing compounds over a period of years and that is characterized by irreversible blue-gray to gray-black staining of skin, fingernails and/or mucous membranes, most evident on sun exposed areas of the skin. Silver exposure is usually occupational but may also occur through dental amalgams, the ingestion of colloidal silver, acupuncture needles, orthopedic implants and topical medications (such as silver sulfadiazine).