ABSTRACT
Ichthyosis follicularis, atrichia, and photophobia (IFAP) syndrome is a rare autosomal recessive, X-linked, genetic disorder that involves a triad of follicular ichthyosis, atrichia of the scalp, and photophobia. We report a case of an 8-year-old boy with alopecia of the scalp, eyebrows, and eyelashes, which occurred in his first year of age. His birth was uneventful, and his developmental milestones were normal. The alopecia was non-scarring and was accompanied by mild generalized xerosis, photophobia, and recurrent angular cheilitis. Moreover, numerous non-inflammatory, follicular, keratotic tiny papules were noticed. His deciduous teeth had retention with gum hyperplasia, and his feet showed symmetrical plantar keratoderma and nail dystrophy of the right big toe. The genetic testing confirmed an X-linked recessive inheritance of IFAP syndrome without BRESHECK syndrome due to the mutation in the MBTPS2 (300294) gene located on chromosome Xp22.12. The patient was given symptomatic treatment with urea cream for plantar keratoderma and was advised to apply constant moisturizers to avoid generalized xerosis. Dermatological and ophthalmological follow-ups were recommended. This is the first case reported from Saudi Arabia. This case report throws light on the characteristics of IFAP syndrome and denotes the points of differentiation from similar conditions.
ABSTRACT
Background: Medullary brainstem lesions are rare tumors that are challenging to treat due to their location in the brainstem, which controls vital functions such as breathing, heart rate, and blood pressure. While the most common subtype is the aggressive diffuse intrinsic pontine glioma, other subtypes exist, including focal brainstem gliomas and cervicomedullary gliomas. The prognosis for patients with brainstem gliomas is generally poor, and treatment options are limited. Early detection and treatment are crucial to improve outcomes for patients with these tumors. Case Description: In this case report, the authors describe a 28-year-old male from Saudi Arabia who presented with headaches and vomiting. Imaging studies and clinical examination revealed a high-grade astrocytoma medullary brainstem lesion. The patient underwent radiation therapy and chemotherapy, effectively controlling tumor growth and improving his quality of life. However, a residual tumor remained, and the patient underwent neurosurgery to resect the remaining tumor was successful in removing the tumor, and the patient showed significant improvement in his symptoms and overall health. Conclusion: This case highlights the importance of early detection and treatment of medullary brainstem lesions. While radiation therapy and chemotherapy are primary treatment options, neurosurgery may be necessary to resect residual tumors. In addition, cultural and social factors may need to be considered in managing these tumors in Saudi Arabia.
