Bloom syndrome.

[erythropoietic protoporphyria]

Bloom Syndrome (BS , MIM #210900 ) is an autosomal recessive genetic disorder caused by a mutation in the BLM gene , which codes for the DNA repair enzyme RecQL 3 helicase . Without proper DNA repair mechanisms , abnormal DNA exchange takes place between sister chromatids and results in genetic instability that may lead to cancer , especially lymphoma and acute myelogenous leukemia , lower and upper gastrointestinal tract neoplasias , cutaneous tumors , and neoplasias in the genitalia and urinary tract . BS patients are usually of Ashkenazi Jewish descent and exhibit narrow facial features , elongated limbs , and several dermatologic complications including photosensitivity , poikiloderma , and telangiectatic erythema . The most concerning manifestation of BS is multiple malignancies , which require frequent screenings and strict vigilance by the physician . Therefore , distinguishing between BS and other dermatologic syndromes of similar presentation such as Rothmund-Thomson Syndrome , Erythropoietic Protoporphyria , and Cockayne Syndrome is paramount to disease management and to prolonging life . BS can be diagnosed through a variety of DNA sequencing methods , and genetic testing is available for high -risk populations . This review consolidates several sources on BS sequelae and aims to suggest the importance of differentiating BS from other dermatologic conditions . This paper also elucidates the recently discovered BRAFT and FANCM protein complexes that link BS and Fanconi anemia .

Diseases
Validation

Diseases presenting "cancer" symptom

achondroplasia

acute rheumatic fever

adrenal incidentaloma

alpha-thalassemia

benign recurrent intrahepatic cholestasis

cadasil

canavan disease

carcinoma of the gallbladder

cholangiocarcinoma

coats disease

congenital adrenal hyperplasia

congenital diaphragmatic hernia

cowden syndrome

cushing syndrome

cutaneous mastocytosis

dedifferentiated liposarcoma

dystrophic epidermolysis bullosa

epidermolysis bullosa simplex

erdheim-chester disease

erythropoietic protoporphyria

esophageal adenocarcinoma

esophageal carcinoma

esophageal squamous cell carcinoma

familial hypocalciuric hypercalcemia

familial mediterranean fever

gm1 gangliosidosis

heparin-induced thrombocytopenia

hereditary cerebral hemorrhage with amyloidosis

hirschsprung disease

hodgkin lymphoma, classical

inclusion body myositis

junctional epidermolysis bullosa

kabuki syndrome

kallmann syndrome

kindler syndrome

lamellar ichthyosis

liposarcoma

locked-in syndrome

lymphangioleiomyomatosis

monosomy 21

neuralgic amyotrophy

oculocutaneous albinism

oligodontia

oral submucous fibrosis

papillon-lefèvre syndrome

pendred syndrome

pleomorphic liposarcoma

primary effusion lymphoma

proteus syndrome

pyomyositis

pyruvate dehydrogenase deficiency

severe combined immunodeficiency

sneddon syndrome

systemic capillary leak syndrome

triple a syndrome

von hippel-lindau disease

waldenström macroglobulinemia

well-differentiated liposarcoma

werner syndrome

wiskott-aldrich syndrome

wolf-hirschhorn syndrome

x-linked adrenoleukodystrophy

This symptom has already been validated