PMID- 28525403
OWN - NLM
STAT- MEDLINE
DCOM- 20180404
LR  - 20220331
IS  - 1531-698X (Electronic)
IS  - 1040-8703 (Linking)
VI  - 29
IP  - 4
DP  - 2017 Aug
TI  - Genetic diseases associated with an increased risk of skin cancer development in 
      childhood.
PG  - 426-433
LID - 10.1097/MOP.0000000000000514 [doi]
AB  - PURPOSE OF REVIEW: Childhood skin cancers are relatively rare and may indicate an 
      underlying genetic disorder. The increasing elucidation of genetic pathways is 
      changing the diagnosis and management of genetic skin cancer susceptibility 
      syndromes. In this review, we provide an overview of genetic conditions that 
      predispose to skin cancer development in childhood and signs that providers 
      should assess when evaluating affected individuals. RECENT FINDINGS: In basal 
      cell nevus syndrome (BCNS), the patched2 (PTCH2) and suppressor of fused (SUFU) 
      genes have been implicated in disease pathogenesis. The sonic hedgehog (SHH) 
      pathway inhibitor vismodegib was shown in a placebo-controlled phase III 
      randomized trial to reduce the tumor burden in patients with BCNS. Epidermolysis 
      bullosa (EB) has been classified into four major types and more than 30 subtypes 
      based partly on specific mutations, and best clinical practice guidelines for the 
      management of cutaneous squamous cell carcinoma in EB have been developed. 
      Oculocutaneous albinism (OCA) has been associated with new mutations in genes 
      named OCA5, OCA6, and OCA7, bringing to the total number of culprit genes to 
      seven (OCA1-OCA7). SUMMARY: Advances in our understanding of genetic conditions 
      that predispose to childhood skin cancer include new disease classification 
      systems, management guidelines, and treatment options.
FAU - Fogel, Alexander L
AU  - Fogel AL
AD  - aStanford University School of Medicine bDepartment of Dermatology cDepartment of 
      Dermatology and Pediatrics dDivision of Pediatric Dermatology, Stanford 
      University School of Medicine, USA.
FAU - Sarin, Kavita Y
AU  - Sarin KY
FAU - Teng, Joyce M C
AU  - Teng JMC
LA  - eng
PT  - Journal Article
PT  - Review
PL  - United States
TA  - Curr Opin Pediatr
JT  - Current opinion in pediatrics
JID - 9000850
RN  - 0 (Genetic Markers)
SB  - IM
MH  - Carcinoma, Basal Cell/diagnosis/*genetics/therapy
MH  - Carcinoma, Squamous Cell/diagnosis/*genetics/therapy
MH  - Child
MH  - Genetic Markers
MH  - Genetic Predisposition to Disease
MH  - Humans
MH  - Melanoma
MH  - Neoplastic Syndromes, Hereditary/diagnosis/*genetics/therapy
MH  - Risk Factors
MH  - Skin Diseases, Genetic/diagnosis/*genetics/therapy
MH  - Skin Neoplasms/diagnosis/*genetics/therapy
EDAT- 2017/05/20 06:00
MHDA- 2018/04/05 06:00
CRDT- 2017/05/20 06:00
PHST- 2017/05/20 06:00 [pubmed]
PHST- 2018/04/05 06:00 [medline]
PHST- 2017/05/20 06:00 [entrez]
AID - 10.1097/MOP.0000000000000514 [doi]
PST - ppublish
SO  - Curr Opin Pediatr. 2017 Aug;29(4):426-433. doi: 10.1097/MOP.0000000000000514.