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      Hemimaxillary Enlargement, Asymmetry of the Face, Tooth Abnormalities, and Skin Findings (HATS) Syndrome: A Case Report and Review of the Literature

      case-report
      Author(s): 1 ,
      Editor(s): ,
      Publication date (Electronic, pub):
      Publication date (Electronic, collection):
      Journal: Cureus
      Publisher: Cureus
      Keywords: hats syndrome, segmental odontomaxillary dysplasia (sod)

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          Abstract

          Hemimaxillary enlargement, asymmetry of the face, tooth abnormalities, and skin findings (HATS) syndrome, a rare developmental disorder, involves the first and second branchial arches and is characterized by hemimaxillary enlargement, abnormal appearance of skin and teeth, and facial asymmetry. It is generally detected at birth or during early childhood and is associated with unilateral abnormalities of the face, including the bones, teeth, gums, and skin. Becker nevus is the most common cutaneous manifestation of HATS syndrome. Although patients with HATS syndrome have been treated with various therapeutic regimens, no standard or definitive treatment regimen has been established. This study describes this rare condition in a 12-year-old girl.

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          Activating mutations of the stimulatory G protein in the McCune-Albright syndrome.

          L Weinstein, A Shenker, P V Gejman … (1991)
          The McCune-Albright syndrome is a sporadic disease characterized by polyostotic fibrous dysplasia, café au lait spots, sexual precocity, and hyperfunction of multiple endocrine glands. These manifestations may be explained by a somatic mutation in affected tissues that results in activation of the signal-transduction pathway generating cyclic AMP (cAMP). We analyzed DNA from tissues of patients with the McCune-Albright syndrome for the presence of activating mutations of the gene for the alpha subunit of the G protein (Gs alpha) that stimulates cAMP formation. Genomic DNA fragments encompassing regions (exons 8 and 9) previously found to contain activating missense mutations of the Gs alpha gene (gsp mutations) in sporadically occurring pituitary tumors were amplified in tissues from four patients with the McCune-Albright syndrome by the polymerase chain reaction. The amplified DNA was analyzed for mutations by denaturing gradient gel electrophoresis and allele-specific oligonucleotide hybridization. We detected one of two activating mutations within exon 8 of the Gs alpha gene in tissues from all four patients, including affected endocrine organs (gonads, adrenal glands, thyroid, and pituitary) and tissues not classically involved in the McCune-Albright syndrome. In two of the patients, histidine was substituted for arginine at position 201 of Gs alpha, and in the other two patients cysteine was substituted for the same arginine residue. In each patient the proportion of cells affected varied from tissue to tissue. In two endocrine organs, the highest proportion of mutant alleles was found in regions of abnormal cell proliferation. Mutations within exon 8 of the Gs alpha gene that result in increased activity of the Gs protein and increased cAMP formation are present in various tissues of patients with the McCune-Albright syndrome. Somatic mutation of this gene early in embryogenesis could result in the mosaic population of normal and mutant-bearing tissues that may underlie the clinical manifestations of this disease.
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            Clinical characteristics and risk profile of patients with elevated baseline serum tryptase.

            C Fellinger, W Hemmer, F Wantke … (2014)
            The clinical relevance of elevated basal serum tryptase (eBST ≥ 11.4 ng/ml) often remains unclear.
            Article 0 comments Cited 23 times – based on 0 reviews     Review now
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              First Identification of an Inherited TPSAB1 Quintuplication in a Patient with Clonal Mast Cell Disease

              Vito Sabato, Jack Chovanec, Margaretha Faber … (2018)
              Article 0 comments Cited 19 times – based on 0 reviews     Review now
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                Author and article information

                Journal
                Journal ID (nlm-ta): Cureus
                Journal ID (iso-abbrev): Cureus
                Journal ID (issn): 2168-8184
                Title: Cureus
                Publisher: Cureus (Palo Alto (CA) )
                ISSN (Electronic): 2168-8184
                Publication date (Electronic, pub): 16 May 2020
                Publication date (Electronic, collection): May 2020
                Volume: 12
                Issue: 5
                Electronic Location Identifier: e8159
                Affiliations
                [1 ] Dermatology, College of Medicine, King Saud University, Riyadh, SAU
                Author notes
                Article
                DOI: 10.7759/cureus.8159
                PMC ID: 7233494
                SO-VID: 894fb232-5db8-4d95-9987-5318ee8ebbc4
                Copyright © Copyright © 2020, Alakeel et al.
                License:

                This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

                History
                Date received : 20 April 2020
                Date accepted : 15 May 2020
                Categories
                Subject: Dermatology

                Keywords: hats syndrome,segmental odontomaxillary dysplasia (sod)
                Data availability:
                Keywords: hats syndrome, segmental odontomaxillary dysplasia (sod)

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