Background: Hereditary epidermolysis bullosa (EB) is a genetic disorder affecting skin adhesion proteins, which can impact hair follicle integrity, leading to alopecia. Objectives: We aimed to describe the epidemiological and clinical characteristics of alopecia in EB and its correlation with EB subtypes. Methods: Patients with EB were selected retrospectively and data on alopecia were collected. Results: Among 52 EB patients (M/F ratio = 1.08) with a mean age of 18.8 years (5 months to 65 years), subtypes included recessive dystrophic EB, severe (RDEB-sev) (57.7%), recessive dystrophic EB, intermediate (RDEB-int) (25%), dominant dystrophic EB (DDEB) (7.7%), autosomal dominant EB simplex, severe (AD-EBS-sev) (5.7%), and dystrophic EB pruriginosa (DEB-prur) (3.8%). Alopecia was observed in 63.5% of cases, predominantly in females (F/M ratio = 1.75). It was present in 80% of RDEB-sev cases (40% scarring alopecia (SA), 60% non-scarring alopecia (NSA), and 20% mixed), 46.6% of RDEB-int cases (42.8% SA, 57.1% NSA), and 66.6% of AD-EBS-sev cases (all NSA, with one psoriasiform plaque). The average onset was at 4.2 years, and alopecia primarily affected the frontal area (75.8%). Trichoscopy, performed in 3 patients, showed an alternation of white and pigmented bands and perifollicular hyperkeratosis in 2 patients with RDEB-int with SA. Conclusions: EB frequently leads to alopecia, particularly SA in dystrophic EB. However, in this series, dystrophic EB more commonly presented with NSA, potentially due to anemia or intrinsic hair abnormalities. DDEB was associated with NSA, though no scalp involvement was noted in this study. Trichoscopy revealed varied findings across cases, suggesting it may help distinguish alopecia types in EB.
Background: Epilepsy and behavioral disorders in children can result from various genetic etiologies. We report the case of a child with refractory epilepsy and behavioral disturbances in whom two rare variants were identified in the SLC2A1 and SMC1A genes. This case highlights the importance and challenges of early molecular diagnosis in resource-limited African settings. Case Presentation: A male child presented with early-onset epilepsy and significant behavioral disturbances. Neurological examination showed no malformations. Brain MRI was normal. Sleep EEG revealed no interictal epileptiform activity. Psychomotor assessment indicated hyperactivity, attentional deficits, fine and gross motor difficulties, and opposition to limits. Initial developmental screening was performed using the Denver Developmental Screening Test II, which showed mild delay in fine motor coordination and expressive language. A subsequent comprehensive evaluation using the Bayley Scales of Infant and Toddler Development, 3rd edition, confirmed a global psychomotor delay predominantly affecting coordination and attention. Genetic analysis from a buccal swab using targeted next-generation sequencing revealed two heterozygous rare variants: SLC2A1 c.580_585del (p. Phe194_Ile195del) and SMC1A c.2414A>G. These variants have not been previously reported in African literature. The patient received adapted antiepileptic therapy and multidisciplinary follow-up. Conclusion: This case illustrates the exceptional coexistence of SLC2A1 and SMC1A variants and underlines the value of early molecular diagnosis even in resource-limited contexts, to guide personalized management.
Background: Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency is a rare autosomal recessive inborn error of metabolism caused by biallelic mutations in the OXCT1 gene. It results in defective ketone body utilization and presents with recurrent or life-threatening episodes of high anion gap metabolic ketoacidosis. Methods: Analysis of eight patients from seven unrelated families diagnosed with SCOT deficiency based on clinical, biochemical, and molecular findings was performed. Molecular genetic analysis of the OXCT1 gene was carried out in the patients and their parents (trio) using whole-exome sequencing. Results: All eight patients had documented high anion gap ketoacidosis as the primary manifestation. Molecular studies revealed five novel pathogenic variants in OXCT1, with the c.329G>A mutation being the most recurrent among them. One family reported a previously deceased sibling who had succumbed to a similar metabolic crisis. Intensive metabolic management during crises and early recognition improve survival and help prevent long-term complications. Conclusion: This report represents the first series of molecularly confirmed SCOT deficiency cases from South India. The identification of multiple novel mutations expands the mutational spectrum of OXCT1 and underlines the importance of early molecular diagnosis and prompt metabolic intervention in improving patient outcomes.
