9 citations
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January 1975 in “Munich Personal RePEc Archive (Ludwig Maximilian University of Munich)” This report describes a case of Rothmund-Thomson type congenital poikiloderma, noting minor skin changes, hair loss, and slightly elevated lysine and cystine in the urine.
3 citations
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December 1991 in “PubMed” This report describes an infant who was diagnosed with Rothmund-Thomson syndrome, a rare genetic disorder characterized by diverse skin changes, short stature, and other developmental anomalies.
August 2024 in “Journal of Dermatology & Cosmetology” This case study reports a patient with Rothmund-Thomson syndrome manifesting later in life, who was treated with acitretin to prevent non-melanoma skin cancer associated with the condition.
5 citations
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January 2018 in “Acta Dermatovenerologica Alpina Pannonica et Adriatica” This case study highlights congenital atrichia with papular lesions as a cause of total body hair loss, characterized by the absence of hair follicles and the presence of skin-colored papules.
8 citations
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January 2014 in “Indian Journal of Paediatric Dermatology” This case report describes a 4-year-old boy with congenital alopecia characterized by complete irreversible hair loss and papular lesions associated with keratin-filled cysts.