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