Patient 1 is a 13-year-old male, originating from a non-consanguineous Spanish family ( Fig. 1 D ). He first presented at the age of 4-year-old with an enlarging cutaneous mass over his left thigh with sclerodermoid induration and slight hyperpigmentation and hypertrichosis. Over the years the cutaneous changes gradually spread to involve the left shin, left lower abdomen and right thigh ( Fig. 1 A). Progressive bilateral sensorineural hearing loss presented when the patient was eight. At age 10 he developed diffuse alopecia of the scalp and halo nevi on the trunk. Additional significant findings on physical examination included gynecomastia ( Fig. 1 A), splenomegaly, scrotal masses, varicose veins and fixed flexion contractures of the proximal interphalangeal joint of his left fifth finger ( Fig. 1 A). Several weeks of prednisone treatment induced partial improvement of the thickened and indurated thigh masses and abdominal plaques.
Case: Mohlo-Pessach Patient 1, male, 13yo at report, 4yo at onset, Spanish
CasePresentingHPOs: HP:0000953, HP:0000998, HP:0000407, HP:0001596, HP:0003764, HP:0000771, HP:0001744, HP:0002619, HP:0100490, HP:0001935, HP:0003565, HP:0011227, HP:0002716, HP:0100727
CasePresentingHPOsFreeText: Enlarging cutaneous mass over the left thigh with sclerodermoid induration. Hyperpigmentation onset at 4yo; located on thighs, left shin, and left lower abdomen. Alopecia of the scalp. Halo nevi on the trunk. Scrotal masses. Fixed flexion contractures of the proximal interphalangeal joint of his left fifth finger. Skin biopsy included dermal infiltrate consisting of lymphocytes, plasma cells and CD68+ histiocytes, and dermal and subcutaneous fibrosis
CaseNOTHPOs:
CaseNOTHPOSFreeText:
CasePreviousTesting:
CaseGenotypingMethod: SLC29A3 exons and splice junctions were PCR-amplified using intronic primers. PCR products were purified and sequenced on ABI 3700 capillary sequencer.
Variant: c.1087C>T (p.Arg363Trp) homozygous
ClinVarID: or CAID: CA129561
gnomAD: This missense variant, Arg363Trp, is present in gnomAD v4.0.0 with a MAF=0.0001734 (1/5768 alleles) in the Middle Eastern population and 0 homozygotes.
AddCaseInfo: non-consanguineous family
PreviouslyPublished: n/a
VariantEvidence: n/a