Thyroid: Germline mutations in the thyroid hormone receptor alpha gene can easily lead to skin markings and melanocytic nevi.

Background: Many physiological effects of thyroid hormone (TH) are mediated by nuclear receptors (TH receptor α and β [TRα and TRβ]) regulating the transcription of target genes
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The heterozygous dominant negative mutation of human transthyroid hormone alpha (RTHα) is characterized by hypothyroidism in specific tissues (such as skeletal dysplasia, neurodevelopmental delay, and constipation), but the TH concentration in the circulation is close to normal

Many physiological effects of thyroid hormone (TH) are mediated by nuclear receptors (TH receptor alpha and beta [TR alpha and TR beta]) regulating the transcription of target genes

Results: Multiple skin marks and moles were recorded in all cases, mainly located on the head and neck, and tended to be mostly flexed
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Patients with highly malignant mutations (p.

Figure 1 Patients with THRA mutations and skin lesions
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Representative images of skin (P1, P6 right picture) and moles (P4, P5, P6 left picture) of patients with four different THRA mutations

Figure 1 Patients with THRA mutations and skin lesions

Table RTHα patients' clinical characteristics, genotypes and skin lesions

Table RTHα patients' clinical characteristics, genotypes and skin lesions

Figure 2 Differential expression of wild-type and mutant THRA alleles in skin moles
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(A) DNA sequence and relative (%) mRNA expression of oligonucleotides used to amplify wild-type (wt) and mutant (mut) alleles of four different patients Divided into five groups

Figure 2 Differential expression of wild-type and mutant THRA alleles in skin moles

Our observation highlights the occurrence of skin markers and benign melanocytic nevi in ​​RTHα, and the patient's skin cells are in a state of excessive proliferation

 Di Cicco E, Moran C, Visser WE, et al.

Germ Line Mutations in the Thyroid Hormone Receptor Alpha Gene Predispose to Cutaneous Tags and Melanocytic Nevi.
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