Alopecia with Vitamin D-Dependent Rickets Type 2 A: A Case Report.

Vitamin D-dependent rickets type II (VDDR2) is a rare inherited autosomal recessive disorder wherein the genetic mutation results in a defect in the vitamin D receptor (VDR), thus leading to target resistance to 1.25-dihydroxy vitamin D. This results in hypocalcemia, hypophosphatemia, secondary hyperparathyroidism, and rickets. We report a case of a four-year-old female child with diffuse alopecia starting 2 weeks after birth, along with frontal bossing, hypoplastic teeth, and an unusual presentation of multiple skin-colored papules over the back. Genetic testing confirmed vitamin D-dependent rickets type 2A.

Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome in a Saudi Child: A Case Report.

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.

Management of coronavirus disease 2019 vaccine-induced cutaneous complications: A comprehensive literature review.

Despite the numerous reports of cutaneous manifestations associated with vaccines for coronavirus disease 2019 (COVID-19), the relationship between COVID-19 vaccines and cutaneous side effects remains unevaluated. In this review, we examine these manifestations and their management. Reported dermatoses included injection-site reaction (early and delayed), type I allergic reaction, morbilliform eruption, pityriasis rosea, Sweet syndrome, lichen planus, psoriasis, herpes zoster reactivation, erythema multiforme, Stevens-Johnson syndrome, and toxic epidermal necrolysis (TEN). The most common COVID-19 vaccination-related cutaneous manifestations are delayed local reactions, approximately 66% of which are associated with the Moderna vaccine, and 33% with the Pfizer vaccine. Aside from mild injection-site reactions, severe reactions include anaphylaxis and TEN. Most reactions, except for Stevens-Johnson syndrome and anaphylaxis, though unpredictable and unpreventable are mild and can be treated symptomatically. Findings from this review should allow primary care physicians and dermatologists to reach faster diagnosis and initiate prompt intervention.

Focal Dermal Hypoplasia Associated With Lymphedema: A Case Report From Saudi Arabia.

Focal dermal hypoplasia (FDH), also known as Goltz syndrome, is a rare syndrome described in the literature. Patchy skin hypoplasia is the most evident sign. Hyperpigmentation, hypopigmentation, papillomas, limb defects, and orofacial manifestations have also been reported. A 12-year-old Saudi girl with unremarkable family history presented with FDH. The diagnosis was confirmed using a genetic study. Physical examination revealed asymmetrical streaks of vermiculate dermal atrophy, telangiectasia with hyperpigmentation, and hypopigmentation on the left half of the face, trunk, and bilateral extremities. It appears along Blashko lines. No mental impairment was observed. Intraoral examination generalized plaque-induced gingivitis with erythematous gingival hyperplasia. Examination of the teeth showed generalized enamel hypoplasia with abnormal tooth formations, malalignment, microdontia, spacing and tilting, and minimal caries. As reported cases of FDH are rare worldwide, this syndrome is yet to be fully understood. As the manifestation of the syndrome varies among cases, the management of each case is unique. This emphasizes the importance of reporting cases of FDH.

Pityriasis Rosea Following Pfizer-BioNTech Vaccination in an Adolescent Girl.

Pityriasis rosea (PR) is an acute self-limiting exanthematous skin disorder characterized by the presence of a primary solitary lesion called a herald patch and the subsequent development of diffuse papulosquamous lesions within 1 to 2 weeks. This is a case of COVID-19 vaccine-induced PR in the age group (12-18 years) that was recently approved for vaccination. We report a case of a 15-year-old otherwise healthy female with a history of 2 weeks of single oval primary plaque appearing on the right wrist 2 days after receiving the second dose of Pfizer-BioNTech vaccine, followed by diffuse and mild itchy skin eruptions spreading over the abdomen, back, chest, and extremities. The patient had no other symptoms and no PR risk factors. The patient was placed on 800 mg acyclovir five times a day and improved markedly after 1 week. As vaccine-induced PR/PR-like eruptions (PR-LE) is an uncommon phenomenon, we recommend further studies to determine the association between PR/PR-LE and COVID-19 vaccination.