January 2025 in “JCEM Case Reports” This report describes a 27-year-old patient with Ehler-Danlos syndrome who also presented with hypophosphatasia and mastocytosis, and suggests enzyme replacement therapy might alleviate symptoms in such overlapping genetic conditions.
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October 2001 in “British Journal of Ophthalmology” This case report suggests that intralesional cidofovir may be a consideration for treating squamous cell carcinoma, as it showed a successful outcome without systemic toxicity, although surgical excision remains preferred.
June 2022 in “Indian Journal of Ophthalmology/Indian journal of ophthalmology” This case report of an infant with AEC syndrome highlights the importance of early and aggressive management of ocular complications to preserve vision and reduce the risk of amblyopia.
July 2021 in “British Journal of Dermatology” This report describes a boy with ectodermal dysplasias who was genetically diagnosed due to newly discovered TSPEAR gene variants, which have now been associated with this condition.
January 2020 in “Medical journal of clinical trials & case studies” This report details a case of dystrophic epidermolysis bullosa in a 37-year-old male with a recessive mutation in the CLO7A1 gene, affecting type VII collagen.