Hypohidrotic ectodermal dysplasia syndrome in a Sudanese patient: a case report
Mohamed Abdullatif Mukhtar, Ahmed Alnazear Abdalla Amine, Sahar Abdelatif Muctar, Muntasir Eltayeb Ibrahim, Hiba Salaheldin Mohamed · 2025
Read Hypohidrotic ectodermal dysplasia syndrome in a Sudanese patient: a case report by Mohamed Abdullatif Mukhtar, Ahmed Alnazear Abdalla Amine, Sahar Abdelatif Muctar, Muntasir Eltayeb Ibrahim, Hiba Salaheldin Mohamed (2025) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-13225172.txt.
Description
Mohamed Mukhtar and four co-authors report a rare skin-and-teeth disorder in a Sudanese man, in a 2025 case study. The disorder stunts the growth of hair, teeth, and sweat glands from birth. The 36-year-old man had all three marks: scant sweat, missing teeth, and thin hair, plus scaly skin. No one else in his family showed the same picture.
Doctors checked six relatives and hunted for faults in the gene most often blamed for this condition. That gene read clean in the whole family, with no cuts or changes found. The team advised the man on ways to avoid dangerous overheating, since his body cannot cool itself well. They read the clean gene test as a sign that other genes can drive this disorder, and they call for wider testing in such cases.
Catalog record
| CREATOR | Mohamed Abdullatif Mukhtar, Ahmed Alnazear Abdalla Amine, Sahar Abdelatif Muctar, Muntasir Eltayeb Ibrahim, Hiba Salaheldin Mohamed |
|---|---|
| YEAR | 2025 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 11 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |