Dermatological Manifestations of Inherited Cancer Syndromes in Children

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

Disclosures

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]

Comments

3090D553-9492-4563-8681-AD288FA52ACE
Comments on Medscape are moderated and should be professional in tone and on topic. You must declare any conflicts of interest related to your comments and responses. Please see our Commenting Guide for further information. We reserve the right to remove posts at our sole discretion.
Post as:

processing....