Isolated primary syphilitic chancre in the lower lip of a teenager

Abstract

favorable prognosis without oral retinoid treatment, suggesting that long-term survival cannot be solely attributed to oral retinoids.Whether the favorable prognosis in HI is linked to specific ABCA12 mutations in patients remains uncertain.ABCA12 encodes a group of highly conserved proteins involved in the adenosine triphosphate-binding cassette (ABC) transporter system, presumed to play a role in lipid transport. 2 Severe ABCA12 mutations disrupt lipid transport through lamellar granules in keratinocytes, resulting in abnormal assembly or formation of the epidermal keratinocyte surface lipid barrier and the manifestation of HI. 8 Most ABCA12 mutations in HI are truncation mutations, present as either homozygous or compound heterozygous truncations. 3 Reported ABCA12 mutations in HI include truncation mutations, missense mutations, exon deletions, and single amino acid deletions. 9 To induce the HI phenotype, at least one mutation on each allele must be a truncation or deletion mutation in a conserved region, leading to a significant loss of ABCA12 protein function. 9 The c.5932C>T variant in exon 40 found in our patient is predicted to result in a nonsense mutation at position 1978 (p.Gln1978*), leading to a truncated protein. The c.56T>A variant in exon 1 is predicted to cause an alternative amino acid substitution at position 19 (p.Val19Glu). To the best of our knowledge, both ABCA12 mutations identified in our patients are novel. In conclusion, there is limited understanding of the course and prognosis of HI because of the high neonatal mortality rate. Our report highlights two siblings with HI who have achieved longterm survival, exhibiting improved dermatological symptoms and irreversible digital autoamputation caused by cutaneous constriction bands. Additionally, we identified novel ABCA12 mutations in our patients. Despite advances in medical care, HI still presents a risk of fatality, emphasizing the importance of early prenatal diagnosis facilitated by the discovery of new mutations.

Cocaine-Induced Plasma Cell Orificial “Dermatomucositis”: A More Accurate Descriptive Term for a Clearly Dermatological Entity

“…The first recommended technique is the use of immunohistochemistry for Treponema . The presentation of syphilis with involvement of the upper lip is a characteristic clinical profile in the literature, serving as a manifestation of primary syphilis (chancre), secondary syphilis, 4–10 and even tertiary syphilis. 11,12 In some cases, there may be no evidence of sexual transmission.…”