Dermatological Manifestations of Inherited Cancer Syndromes in Children

A. Karalis; M. Tischkowitz; G.W.M. Millington


The British Journal of Dermatology. 2011;164(2):245-256. 

In This Article

Primary Immunodeficiencies

There are already two dermatologically oriented reviews of the genetic immunodeficiency diseases.[9,75] We emphasize here those conditions where dermatological findings may help direct early diagnosis and where an increased risk of malignancy exists.

Wiskott–Aldrich Syndrome

Wiskott–Aldrich syndrome (WAS) is a severe X-linked immunodeficiency syndrome caused by mutations in the WASP gene.[76] WASP family proteins form a link between the GTPases and the actin cytoskeleton,[77] acting as key regulators of signalling in haematopoietic cells.[77] WAS has a wide range of clinical manifestations including thrombocytopenia, immunodeficiency, eczema, tumour susceptibility and autoimmunity.[76] WAS results in premature death, unless the child receives a bone marrow transplantation.[76]

Chediak–Higashi Syndrome

Chediak–Higashi syndrome (CHS; autosomal recessive) is due to mutation in the CHS1/LYST gene, which interferes with regulation of vesicle trafficking.[78] It is characterized by generalized hypopigmentation, recurrent infections, mild coagulopathies and varying neurological difficulties.[78] More specifically, the skin and hair can have a silver-grey hue. Bone marrow transplant will reverse most of the symptoms, but not the neurological problems.[78] CHS may predispose to acute lymphoblastic leukaemia[79] and T-cell lymphoma.[80]

X-linked Agammaglobulinaemia (Bruton Type)

Agammaglobulinemia is an X-linked immunodeficiency characterized by failure to produce mature B lymphocytes and is associated with decreased immunoglobulin levels.[81,82] It is due to a mutation in the BTK gene, a key regulator in B-cell development. Patients are unusually prone to cutaneous bacterial, but not viral, infections.[81,82] Eczema is also frequently seen[82] and a dermatomyositis-like syndrome has also been described.[81] X-linked agammaglobulinaemia is associated with an increased risk of colorectal cancer[83] and gastric carcinoma.[84]


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