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

Other Conditions

X-linked Dyskeratosis Congenita

X-linked dyskeratosis congenita (X-LDC) is caused by mutations in the gene (DKC1) coding for dyskerin, involved in telomere maintenance. This accounts for the impaired function of rapidly dividing cells, such as cutaneous and haematopoietic stem cells.[85] X-LDC presents with the classic dermatological triad of abnormal skin pigmentation, nail dystrophy and mucosal leucoplakia.[85] Nail and skin pigmentation changes occur by age 10 years.[85] There is an increased risk of haematological malignancy and various solid tumours.[86] Severe bone marrow failure, which responds poorly to bone marrow transplantation, appears later on in the course of the disease.[85]


Neuroblastoma is the most common childhood cancer in infants,[87] and several susceptibility loci have been identified.[87] Skin findings include either cutaneous metastases[88] or CALMs.[89]

Nail-patella Syndrome

Nail-patella syndrome (NPS) is due to haploinsufficiency for LMX1B, encoding a LIM-homeodomain protein.[90] It is characterized by dysplastic nails in association with absent or dysplastic patellae. Other features include elbow dysfunction and an increased risk of glaucoma and renal abnormalities.[90] NPS has been associated with familial colorectal carcinoma[91] although this may be coincidental.


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