FAST FACTS FOR BOARD REVIEW Series Editor: William W. Huang,MD,MPH W. Series Editor:William Swetha N.Pathak,MD;JacquelineDeLuca,MD Pediatric PhotosensitivityDisorders Table 1. Pediatric Photosensitivity Disorders Disease Pathophysiology Clinical Features Management/Prognosis Other/Pearls Actinic prurigo Strong association Pruritic crusted papules Phototesting: lesions Native Americans, (hydroa aestivale, with HLA-DR4 and nodules in both provoked by UVA or UVB; especially mestizos; Hutchinson (HLA-DRB1*0401/0407); sun-exposed and less spontaneous resolution hardening does not summer prurigo) may be a persistent frequently nonexposed may occur during late occur; histopathology: variant of PMLE sites (ie, buttocks); heal adolescence; may follow dermal perivascular (delayed-type with scarring; mucosal a chronic course that mononuclear cell hypersensitivity) and conjunctival persists in adulthood; infiltrate, lacks papillary from UVA or UVB involvement, with cheilitis photoprotection; topical dermal edema, can see often an initial or only corticosteroids and lymphoid follicles feature; worse in summer topical tacrolimus; from lip biopsies; but can extend to winter NB-UVB or PUVA; occurs hours to cyclosporine or days following azathioprine; thalidomide sun exposure (treatment of choice) for (vs solar urticaria) resistant disease noconflictofinterest. The authorsreport Long Beach,California. Center, LaserSkinCare DeLucaisfrom Dr. North Carolina. Winston-Salem, University, Forest Wake Pathakisfrom Dr. Bloom syndrome AR; BLM (encodes Malar telangiectatic Diabetes mellitus; Decreased fertility/ (congenital RecQ helicase); results in erythema; café au lait respiratory and GI sterility; decreased telangiectatic chromosomal instability; macules; elongated narrow infections; increased IgA, IgM, and IgG; erythema) 50% Ashkenazi Jewish face with prominent nose; frequency of malignancies increased chromosomal ancestry short stature (eg, leukemia, lymphoma, breakage, sister GI adenocarcinoma) chromatid exchanges, and quadriradial configurations in lymphocytes and fibroblasts Cockayne syndrome AR; 2 complementation Photosensitivity without Most common cause Basal ganglia groupsa; defective pigmentary changes; of death is neurologic calcification; transcription-coupled cachectic dwarfism; degeneration; death by demyelination; nucleotide excision repair; prominent ears; 3rd decade of life; no osteoporosis; MR; unable to repair pyrimidine malar erythema increase in malignancies deafness; dental dimer photoproducts and caries; salt-and-pepper oxidative DNA damage retinopathy continued on next page Copyright Cutis 2016. This page may be reproduced by dermatologists for noncommercial use. Cutis® Fast Facts for Board Review Table 1. (continued) Disease Pathophysiology Clinical Features Management/Prognosis Other/Pearls Hartnup disease AR; SLC6A19 (encodes Pellagralike dermatosis; Photoprotection; Glossitis; vulvovaginitis; B0AT1, a neutral amino neurologic abnormalities supplementation angular stomatitis acid transporter); (cerebellar ataxia); of nicotinic acid or decreased renal and GI aminoaciduria nicotinamide absorption of tryptophan Hydroa vacciniforme Unclear; may be variant Pruritic or stinging Phototesting: lesions Rare; can see hydroa of PMLE; EBV isolated symmetric erythematous provoked by repeated vacciniforme–like within cutaneous lesions; macules within hours of monochromatic or eruptions in patients with more common and sun exposure; evolve into broad-spectrum UVR; chronic EBV infection: greater severity in males tender plaques, vesicles, or spontaneous resolution EBV-associated bullae that umbilicate and by late adolescence NK/T-cell lymphomas become necrotic and heal (mean duration, 9 y); and subsequent with varioliform scarring; photoprotection; hemophagocytic attacks can be associated broad-spectrum syndrome; with malaise, fever, or sunscreens with UVA histopathology: headache coverage; phototherapy dense perivascular hardening by NB-UVB; lymphohistiocytic systemic therapy: infiltrate, epidermal antimalarials, cyclosporine, necrosis azathioprine, thalidomide Kindler syndrome AR; KIND1 Early: photosensitivity, Avoidance of Mucosal membrane (FERMT1) acral blistering; later: trauma; emollients; involvement; red friable poikiloderma, atrophy photoprotection hyperplastic gums Rothmund-Thomson AR; RECQL4 Onset at 3–6 mo; facial One-third of patients Radial ray defects on syndrome (encodes a DNA erythema, edema, and develop osteosarcoma in radiograph; RECQL4 (poikiloderma helicase) vesicles at onset during the youth; increased risk for mutation also causes congenitale) first few months of life; later SCC at sites of keratotic RAPADILINOb develop poikiloderma; acral and atrophic lesions; syndrome and keratosis, short stature, normal life span unless Baller-Gerold syndrome dental abnormalities, malignancy develops; sparse hair, hypoplastic juvenile cataracts; nails/thumb/radius/ulna, diarrhea/vomiting pituitary hypogonadism (during infancy) during childhood and adolescence continued on next page Copyright Cutis 2016. This page may be reproduced by dermatologists for noncommercial use. Cutis® Fast Facts for Board Review Table 1. (continued) Disease Pathophysiology Clinical Features Management/Prognosis Other/Pearls Smith-Lemli-Opitz AR; DHCR7 (encodes Hypospadias; syndactyly Improvement of syndrome 7-dehydrocholesterol of 2nd and 3rd toes photosensitivity reductase); photosensitivity with cholesterol to UVA supplementation Trichothiodystrophy AR; 4 genes: PIBIDSc syndrome No increase in Low cysteine (sulfur) ERCC2/XPD (most malignancies; can content in hair common), ERCC3/XPB, have sideroblastic shafts; hair shaft: MPLKIP/C7orf11, GTF2H5 anemia, eosinophilia, tiger tail banding; and hepatic alternating light and angioendotheliomas dark bands with polarizing microscopy; trichoschisis; trichorrhexis nodosa; receding chin and protruding ears Xeroderma AR; defect in global Lentigines; BCC; Photoprotection ~30% develop pigmentosum genomic nucleotide SCC; melanoma +/– oral retinoids; neurological excision repair; 7 different increased risk for abnormalities complementation groups malignancies: brain, (De Sanctis-Cacchione (A–G) and 1 varianta; lung, oral cavity, syndrome); photosensitivity to UVA GI tract, kidney, and microcephaly; and UVB (primarily at hematopoietic system progressive MR; ataxia; 290–340 nm) quadriparesis; poor growth and sexual development; deafness Abbreviations: PMLE, polymorphous light eruption; NB-UVB, narrowband UVB; PUVA, psoralen plus UVA; AR, autosomal recessive; GI, gastrointestinal; MR, mental retardation; EBV, Epstein-Barr virus; UVR, UV radiation; NK, natural killer; SCC, squamous cell carcinoma; BCC, basal cell carcinoma. aSee Table 2 with Cockayne syndrome and xeroderma pigmentosum subtypes. bRA, radial ray malformations; PA, patella and palate abnormalities; DI, diarrhea and dislocated joints; LI, limb abnormalities and little size; NO, slender nose and normal intelligence. cPhotosensitivity (50% of patients), ichthyosis, brittle hair, intellectual impairment, decreased fertility, short stature. Copyright Cutis 2016. This page may be reproduced by dermatologists for noncommercial use. Cutis® Fast Facts for Board Review Table 2. Cockayne Syndrome and Xeroderma Pigmentosum Subtypes Disease Gene/Subtypes Features CS CS-A: ERCC8; CS-B: ERCC6 (most common) XP XP-A: DDB1; XP-B: ERCC3; XP-A: Japan, + neurological XP-C: endonuclease (most common); complications; XP-variant: no XP-D: ERCC2; XP-E: DDB2; neurological complications XP-F: ERCC4; XP-G: endonuclease; XP-variant: DNA polymerase CS + XP XP-G: ERCC5; XP-B; XP-D Solar lentigines; skin cancers; pigmentary retinal degeneration; basal ganglion calcification Abbreviations: CS, Cockayne syndrome; XP, xeroderma pigmentosum. Copyright Cutis 2016. This page may be reproduced by dermatologists for noncommercial use. Cutis® Fast Facts for Board Review Practice Questions 1. Which photosensitivity disorder is characterized by decreased immunoglobulin-mediated immunity? a. Bloom syndrome b. Cockayne syndrome c. hydroa vacciniforme d. Kindler syndrome e. poikiloderma congenitale 2. Which of the following is an inappropriate treatment for a young Mexican girl with cheilitis and treatment-resistant chronic pruritic crusted papules and scars on both sun-exposed and nonexposed sites? a. oral isotretinoin b. oral prednisone c. oral thalidomide d. topical calcineurin inhibitors e. topical corticosteroids 3. Which gene is mutated in a patient with a history of congenital acral blistering and then gradual onset of cutaneous atrophy and fragility, oral lesions, and photosensitivity? a. DHCR7 b. KIND1 c. RECQL4 d. SLC6A19 e. XPD 4. Which photosensitivity disorder is associated with an increased risk for osteosarcoma? a. actinic prurigo b. Rothmund-Thomson syndrome c. Smith-Lemli-Opitz syndrome d. trichothiodystrophy e. xeroderma pigmentosum 5. All of the following are features seen in De Sanctis-Cacchione syndrome except: a. ataxia b. basal ganglion calcification c. deafness d. hypogonadism e. short stature Fact sheets and practice questions will be posted monthly. Copyright Cutis 2016. This page may be reproduced by dermatologists for noncommercial use..