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Updated: Jun 12, 2026

Portable Thermographic Screening for Detection of Acute Wallenberg's Syndrome
Published on: September 19, 2019
Dário Júnior de Freitas Rosa1, Ronaldo Figueiredo Machado, Marcelino Pereira Martins Neto
1Universidade Federal de Juiz de Fora, MG, Brasil. dariojfr@hotmail.com <dariojfr@hotmail.com>
Hay-Wells syndrome is a rare genetic condition affecting the skin, hair, teeth, and nails. This case report describes a 17-year-old boy with ankyloblepharon filiforme adnatum, ectodermal dysplasia, and cleft palate—key signs of the syndrome. The authors emphasize the importance of a multidisciplinary approach in managing patients with this condition. The report confirms that the syndrome is autosomal dominant and highlights the need for long-term follow-up. No new genetic mutations were identified in this case.
Area of Science:
Background:
Hay-Wells syndrome remains a poorly understood condition within ectodermal dysplasia research. Prior studies have established it as a rare autosomal dominant disorder with variable expression. Researchers have identified skin, hair, teeth, and nail abnormalities as key features. However, the full range of clinical manifestations remains unclear. No prior work had resolved the long-term outcomes of affected individuals. The lack of standardized diagnostic criteria complicates early identification. Multidisciplinary approaches are underexplored in managing this syndrome. This gap motivated the present case report.
Purpose Of The Study:
This case report aims to expand the clinical understanding of Hay-Wells syndrome. The specific problem involves the variability of symptoms and the need for comprehensive care. The motivation stems from the lack of detailed patient follow-up in prior literature. The authors propose that documenting individual cases can clarify diagnostic criteria. The patient described here exhibits classic features of the syndrome. The report highlights the importance of a multidisciplinary approach. This case adds to the limited body of evidence on long-term management. The findings may inform future diagnostic and treatment strategies.
Main Methods:
The study involved a single patient case with a confirmed clinical diagnosis of Hay-Wells syndrome. The patient was a 17-year-old boy with a nonconsanguineous family background. Clinical features were documented through medical records and physical examination. The authors focused on ankyloblepharon filiforme adnatum, ectodermal dysplasia, and cleft palate. No genetic testing was performed in this report. The authors reviewed prior literature to contextualize the findings. The case was selected for its typical presentation of the syndrome. The report emphasizes the need for ongoing multidisciplinary follow-up.
Main Results:
The patient exhibited ankyloblepharon filiforme adnatum, ectodermal dysplasia, and cleft palate at birth. These features align with the cardinal signs of Hay-Wells syndrome. The patient’s parents were not consanguineous, supporting autosomal dominant inheritance. No new genetic mutations were identified in this case. The authors observed typical skin and hair abnormalities consistent with the syndrome. Dental abnormalities were also present, as expected in ectodermal dysplasia. The patient’s condition was managed through a multidisciplinary approach. The report confirms the importance of long-term follow-up for affected individuals.
Conclusions:
The authors propose that this case supports the autosomal dominant inheritance pattern of Hay-Wells syndrome. The findings suggest that ankyloblepharon, ectodermal dysplasia, and cleft palate are reliable indicators. The report emphasizes the need for multidisciplinary care in managing this condition. No prior work had resolved the full clinical spectrum of the syndrome. The authors suggest that further case reports may improve diagnostic accuracy. This case may inform future studies on long-term outcomes. The authors do not claim this case is representative of all patients. The findings may guide clinical management strategies.
The primary features include ankyloblepharon filiforme adnatum, ectodermal dysplasia, and cleft palate. These are considered cardinal signs of the syndrome.
The syndrome is autosomal dominant, meaning only one copy of the mutated gene is needed for expression.
Multidisciplinary care addresses the multiple affected systems, including skin, hair, teeth, and palate.
It is a condition where the eyelids are fused by strands of skin, a common feature in Hay-Wells syndrome.
No, genetic testing was not performed in this specific case report.
This case supports the variable expression of the syndrome, as the patient exhibited typical features.