Buthaina Al-Musalhi

Atypical Skin Blistering in Ichthyosis Prematurity Syndrome: A Case Report of a Novel Homozygous Variant in the SLC27A4 Gene

Tragedy Strikes: Infant's Eczema Complicated by Fatal Septic Shock

Inverted Presentation: Anal Bleeding as the Initial Manifestation of Pediatric Inverse Psoriasis: A Case Report

Early-Onset Progressive Encephalopathy With Brain Oedema and/or Leukoencephalopathy 1: Report of three siblings

NAXE encephalopathy, also known as early-onset progressive encephalopathy with brain oedema and/or leukoencephalopathy-1 (PEBEL-1), is a rare and often lethal autosomal recessive mitochondrial disorder. Typical presentation includes psychomotor regression, ataxia, respiratory insufficiency and seizures triggered by feb …

Clinicoradiological Characteristics and Outcome of Three Patients with PHACES Syndrome Associated with Intracranial Arteriopathy

PHACES syndrome is characterized by segmental infantile hemangiomas (IHs) accompanied by various extra-cutaneous anomalies, including cerebral artery anomalies, cardiac anomalies, ocular anomalies, sternal deformities, and posterior fossa malformations. This report presents three case series of patients with PHACES syn …

Early-onset Lower Limb Edema

A seven-year-old boy presented to the pediatric dermatology clinic with a chronic eczematous pruritic eruption that had been present for several months, as well as persistent bilateral lower limb edema. The patient was free of respiratory distress, tachycardia, or mucocutaneous discoloration. His parents denied any his …

Psoriasiform Skin Lesions and Dental Abnormalities

An 11-year-old boy presented with gradual thickening, scaling, and redness of the skin on his palms and soles that began at the age of seven for which he had been receiving topical corticosteroid treatment from the local primary health care center. Additionally, at age eight, the patient developed gingivitis, leading t …

Congenital Vascular Malformations: A Quick Recap

We present a glimpse of vascular malformations seen at Sultan Qaboos University Hospital from July 2014 to December 2019. The cases are sporadic in nature. Molecular genetic studies can be conducted in patients with a family history of vascular malformations. Cultural practices relating to dress codes may lead to delay …

PHACES Syndrome with Intestinal Hemangioma Causing Recurrent Intussusceptions: A Case Report and Literature Review of Associated Intestinal Hemangioma

PHACES syndrome comprises posterior fossa malformations, segmental hemangioma, arterial anomalies, cardiac defects, eye anomalies and less commonly, sternal cleft, or supraumbilical raphe. We report a case of PHACES syndrome associated with intestinal hemangioma causing recurrent intussusceptions. A full-term infant fe …

Monoclonal Gammopathy of Undetermined Significance and Neutrophilic Dermatosis

Small Cell Variant of T-Cell Prolymphocytic Leukemia with Acquired Palmoplantar Keratoderma and Cutaneous Infiltration

T-cell prolymphocytic leukemia (T-PLL) is a rare and aggressive post-thymic malignancy that is characterized by the proliferation of small- to medium- sized prolymphocytes. The classic clinical features of T-PLL are lymphocytosis, lymphadenopathy, hepatosplenomegaly, and skin lesions. Skin involvement varies clinically …