Congenital sideroblastic anemia associated with B cell immunodeficiency, periodic fevers, and developmental delay: A case report and review of mucocutaneous features

Abstract

This is a 40-year-old woman with sideroblastic anemia with B cell immunodeficiency, periodic fevers, and developmental delay syndrome, who has genital and extragenital lichen sclerosus on the abdomen and the upper back that have become erythematous and painful during febrile episodes. This report summarizes the published cases of sideroblastic anemia with B cell immunodeficiency, periodic fevers, and developmental delay and highlights associated mucocutaneous features.

Case Report: Expanding Clinical, Immunological and Genetic Findings in Sideroblastic Anemia With Immunodeficiency, Fevers and Development Delay (SIFD) Syndrome

“…A later review of the 17 cases previously reported in the literature did not evidence consistent mucocutaneous manifestations in SIFD. However, one adult patient presented lichen sclerosus et atrophicus and morphea (6). Panniculitis, but not relapsing erythema nodosum, was previously reported in one SIFD patient (7).…”

Clinical and Therapeutic Aspects of Sideroblastic Anaemia with B-Cell Immunodeficiency, Periodic Fever and Developmental Delay (SIFD) Syndrome: a Systematic Review

“…Etanercepet started at 2 y still ongoing after 8 y Alive at 10 years. After Eta starting resolution of fever and associated symptoms 45 [ 5 ] Homozygous: c.218_219ins22 NA Exon 3 frameshift 0 m RBC transfusions & Immunoglobulin replacement 2 of 3 patients reported by Fouquet died 46 [ 5 ] Compound heterozygous: c.668 T.C p.I223T Exon 6 Missense c.829G > T; p.Glu277* Exon 7 0 m RBC transfusions & Immunoglobulin replacement 2 of 3 patients reported by Fouquet died 47 [ 5 ] Homozygous: c.977 T.C p.I326T Exon 7 Missense 12 m RBC transfusions & Immunoglobulin replacement 2 of 3 patients reported by Fouquet died 48 [ 18 ] Homozygous: c.977 T.C p.I326T Exon 7 Missense Neonatal RBC transfusions & Immunoglobulin replacement Alive at 4 years old 49 [ 19 ] Compound heterozygous: c.668 T.C p.I223T Exon 6 Missense c.1057-7C.G NA Intron 7 Splicing infancy Around 12 m) Immunoglobulin replacement Alive at 42 years 50 [ 20 ] Compound heterozygous: c.295C > T R99W Exon 3 Missense c.1234C > T, p.Arg412X Exon 8 Stop 1 m Immunoglobulin replacement Alive at 12 years old 51 [ 21 ] Heterozygous: c.448C > T,p.R150C Exon 4 Missense 3 m Short course of methylprednisolone Etanercept at 5 years of age Alive at 64 months with an improvement of quality of life after Etanercept starting. The child had no further febrile episodes or seizures 52 [ 22 ] Compound heterozygous: c.525delT; ...…”

“…Vomiting, diarrhoea and hepatic disease diseases were described in 38/58 (65%) patients, especially during fever episodes and 5 experienced an exocrine pancreatic insufficiency [ 1 – 5 , 8 – 10 , 14 – 19 , 23 , 29 ]. Partial villous atrophy or acute and chronic inflammation in bowel mucosa was recorded in 5 patients [ 3 , 4 , 9 , 19 ].…”

“…Skin abnormalities were reported in 29/58 SIFD population (49%) mainly brittle hair or ichthyotic skin, panniculitis, erythema nodosum, morfea and aspecific rash [ 1 – 5 , 7 , 9 , 11 – 14 , 17 – 19 , 21 – 25 , 27 – 29 ]. A biopsy of erythematous nodule lesions showed a lobular and septal neutrophilic panniculitis [ 13 , 18 , 25 , 28 ].…”

“…A biopsy of erythematous nodule lesions showed a lobular and septal neutrophilic panniculitis [ 13 , 18 , 25 , 28 ]. Jfri’s adult patient (40 years old) showed lichen sclerosus and atrophicus and morphea [ 19 ].…”