Clinical Progression and Manifestations of H Syndrome: A Case Report of Failed Treatment Option.

BACKGROUND H syndrome is an autosomal recessive disorder of histiocytic proliferation with clinical spectrum of unique cutaneous and systemic manifestations. There is no consistent treatment for the disease, and all available options are based on case reports. Here, we present the chronological progression of a case of H syndrome with typical cutaneous manifestations that was misdiagnosed early as meningitis-induced sensorineural hearing loss and later as a non-defined autoimmune connective tissue disease. A new tried, although failed, treatment option is described as well. CASE REPORT A 31-year-old Saudi woman born of a consanguineous marriage presented to our dermatology clinic with symmetrical indurated hyperpigmented to violaceous plaques over the medial thighs, upper legs, lower back, volar wrists, and upper arms, associated with hypertrichosis. Hallux valgus of the big toes was clinically detected as well. She had a history of sensorineural deafness, diabetes mellitus, chronic anemia, and hypothyroidism. Genetic analysis of the patient showed a homozygous frameshift pathogenic variant of the SLC29A3 gene, c.243del p.(Lys81Asnfs*20). Systemic treatments in the form of methotrexate and imatinib had been tried; however, both failed to control her sclerotic cutaneous changes. CONCLUSIONS Knowing the early life presentation and the variable clinical symptoms of H syndrome is crucial in early intervention and further prevention of the non-reversible changes. Moreover, avoiding unnecessary immunosuppressive medication use is warranted in certain circumstances.

Lichen Planus of the Eyelids: Case Report of a Rare Presentation of a Common Dermatosis.

Lichen planus (LP) is a common T-cell-mediated autoimmune skin disease, and its exact etiology is unknown. Typically, it affects the trunk, flexural surfaces, and the mucosa.We report a rare finding of LP involving both eyelids in a 67-year-old female. A 67-year-old Saudi female with a medical history of diabetes mellitus, hypothyroidism and rheumatoid arthritis presented with a three-month history of pruritic skin eruptions in both eyelids. She had no associated musculoskeletal symptoms or fatigue and no medical or family history of atopy. The patient had violaceous, thin, scaly plaques confined to both eyelids. Oral mucosa, genitalia, scalp, and nails were not affected. Histopathology from the right lower eyelid confirmed the diagnosis of LP. Hepatitis C virus serology was negative. Patient was examined by ophthalmology to rule out conjunctival involvement of LP. She had dry eyes only. She was initially managed by topical tacrolimus 0.1% ointment and didn't tolerate it due to severe reaction. She tolerated mometasone propionate 0.1% cream, which relieved the itch and partially improved the lesions. Although rare, LP of the eyelids must be considered among differential diagnoses of eyelid dermatitis. It can be confined, or it may concomitantly involve other parts of the body. LP of the eyelid may also extend to the conjunctiva, so it's important to screen patients by ophthalmology to rule out possible ocular involvement. This is the first case report of a Saudi patient with LP confined to the eyelid. The management of LP involving the eyelids is challenging. Treatment options include topical steroids, tacrolimus ointment, phototherapy and oral retinoids (etretinate).

Public Perception in Saudi Arabia Toward Herpes Zoster and Its Vaccination: A Cross-Sectional Study.

Background Herpes zoster (HZ) or shingles, arises from the reactivation of the varicella zoster virus (VZV), mainly affecting older and immunocompromised individuals. Despite the efficacy of vaccines, vaccination rates in Saudi Arabia are low. Thus, this study aimed to assess the knowledge, attitude, and practice of the Saudi Arabian population toward HZ and its vaccination. Methods An observational cross-sectional study was carried out to evaluate the public perception in Saudi Arabia toward HZ and its vaccination, during the period from January to March 2024. Participants were selected using a non-probability, convenience sampling method, with recruitment facilitated through WhatsApp, a messaging app. Data has been analyzed using the statistical software Statistical Package for Social Sciences (SPSS), version 26.0 (IBM Corp., Armonk, NY). A p-value of <0.05 has been used to report the statistical significance. Results The study's demographic profile included 1237 participants, predominantly younger than 30 years (65.5%), with a female majority (65.7%). Public knowledge about HZ was limited, only 29.6% of participants recognized the risk of HZ post-chickenpox. More than half of the participants were not aware that the vaccine is provided by the Saudi Ministry of Health (MOH) for certain groups. However, over 75% are willing to receive the HZ vaccine upon physician recommendation. Conclusion This study shows a general lack of awareness about HZ and its vaccination in Saudi Arabia, including misconceptions about vaccination availability, recommendations, and the disease's complications. Gender differences in attitude and interest highlight the potential for tailored educational campaigns. Addressing these issues is essential for improving vaccination rates and mitigating HZ's impact.

Calcified Pituitary Adenoma Mimicking Craniopharyngioma: A Case Report.

A 60-year-old woman presented with a history of a previously diagnosed sellar mass and a recent onset of severe headache, vision loss, and dizziness. The patient was found to have a large mass with curvilinear calcification on imaging. Histopathology confirmed the presence of a pituitary adenoma with abnormal acini, consistent with adenoma, and moderate amounts of granular eosinophilic cytoplasm. A detailed analysis of the patterns of calcification and the radiological morphology is crucial to distinguishing between pituitary adenoma and craniopharyngioma. Recognition of these patterns can aid in distinguishing between these conditions, providing a more accurate diagnosis and an effective treatment plan.

Prurigo pigmentosa post-bariatric surgery: a case report.

Background: Prurigo pigmentosa (PP), also referred to as Nagashima disease, is an acquired dermatological condition that is characterized by pruritic erythematous eruptions including papules and plaques surrounded by a reticular pattern of hyperpigmentation. It was first described in 1971 when Japanese dermatologist Masaji Nagashima noticed similar dermatological manifestations among 8 patients of Asian descent. The disease has been strongly associated with ketosis and ketogenic diet; however, the underlying etiology is unknown. Effective treatment involves an oral antibiotic and a balanced diet. The disease classically affects young women of Asian descent, but cases affecting males and people of non-Asian ancestry have also been observed. We present an unusual case of PP in a Saudi male that started 18 days following bariatric surgery. Case Description: The patient is a 25-year-old morbidly obese Saudi male who complained of an intensely pruritic rash 3 weeks after undergoing bariatric surgery. His past medical history is positive for irritable bowel syndrome (IBS). A punch skin biopsy yielded the diagnosis, and a combination treatment consisting of minocycline and a topical corticosteroid was prescribed. The patient presented again 2 weeks after the initial visit with complete resolution of the rash. He reported adherence to the medication regimen. Pruritus had resolved. Upon examination, post-inflammatory hyperpigmentation in a reticular pattern was observed over the trunk, upper abdomen, and chest. Hydroquinone 4% cream was prescribed to treat the post-inflammatory hyperpigmentation. Conclusions: Nowadays, PP cases are being reported from all around the world, including cases of PP that appeared following bariatric surgery for weight loss without ketogenic dietary modification. Theoretically, the typical PP patient is a young adult female from Eastern Asia who has been adherent to a ketogenic diet. In contrast, we report a case of a Saudi male who did no dietary modifications, but underwent bariatric surgery. Treatment with minocycline resulted in successful complete resolution.

Combining Isotretinoin and Topical Cholesterol/Atorvastatin in the Treatment of Linear Porokeratosis: A Case Report.

Linear porokeratosis (LP) is an epidermal keratinization disorder manifesting in the form of annular plaques with an atrophic center and hyperkeratotic margins. Although rare, LP carries a significant risk of skin cancer. Histological examination usually reveals the cornoid lamella, a parakeratosis column visualized in the outer layer of the epidermis. First-line treatment of LP is retinoids. However, the effects of combination therapy of isotretinoin and topical statins on LP are not well-understood. Herein, we attempted treatment with both isotretinoin and 2% cholesterol/atorvastatin ointment, with considerable improvement observed using the former but not the latter. These findings suggest that 2% topical cholesterol/atorvastatin treatment may not carry any additional benefits, even if used alongside retinoids. Further studies are needed to assess the potential effects of statins on LP.

Sporadic Spinal Lumber Epidermoid Cyst in an Obese Adolescent: A Radiological and Pathological Review.

BACKGROUND We report a case of a sporadic lumbar epidermoid cyst in a patient with no apparent risk factors for the condition. The lesion is considered an uncommon lesion that has a potentially debilitating effect on the spinal cord. CASE REPORT Our patient was a 17-year-old boy who presented to the neurosurgery clinic with lower back pain, accompanied by an electrical sensation radiating bilaterally to the buttocks, thighs, and knees. He has been increasingly reliant on a walking cane over the past few months. The patient was considered obese, with a BMI of 44. Otherwise, his physical examination was unremarkable, with no signs of dysraphism. He underwent magnetic resonance imaging (MRI) of the spine, which revealed a lumbar spine lesion, compressing the adjacent cauda equina nerve roots. MRI imaging showed the lesion was an intradural extramedullary mass showing hypointense signal on T1- and hyperintense on T2-weighted images, with diffusion restriction on diffusion-weighted imaging (DWI). The imaging findings were consistent with an epidermoid cyst. CONCLUSIONS Epidermoid cysts are benign lesions, usually found in the head and trunk. When found in the spine, they can cause a range of symptoms that can be debilitating. Patients presenting with signs and symptoms of spinal cord compression should be promptly investigated. MRI is an excellent tool for characterizing an epidermoid cyst. The lesion appears oval and hypointense on T1-weighted imaging, and characteristically shows diffusion restriction on diffusion-weighted imaging (DWI). With surgical treatment, the outcome is usually favorable.

Generalized morphea following COVID-19 vaccine: Case report and literature review.

Physicians should be vigilant for COVID-19 vaccine side effects and investigate any associated cutaneous manifestations. This will ultimately facilitate better understanding and recognition of various skin reactions related to the vaccine.

Acral Prurigo Nodularis: A Case Report.

Prurigo nodularis (PN) is a chronic skin disease that manifests with severe itchy, firm, hyperkeratotic nodules distributed on the trunk and the extremities symmetrically. Here, we report a unique presentation of PN. A 26-year-old male presented with multiple itchy nodules over the hands and feet sparing the trunk, which were confirmed histologically as PN. This is the first reported case of PN with exclusive acral distribution.

Conjunctival myxoma masquerading as conjunctival lymphoma: A case report.

INTRODUCTION AND IMPORTANCE: Ocular myxomas are very rare and can involve the orbit, eyelids, and conjunctiva. Conjunctival myxoma can be misdiagnosed as amelanotic nevus, conjunctival cyst, or ocular surface squamous neoplasia, among others. They can appear as an isolated lesion or can be associated with systemic manifestations as part of the Carney complex or Zollinger-Ellison syndrome. CASE PRESENTATION: We describe a 64-year-old healthy male who presented with a right eye painless peri-limbal salmon-colored patch lesion in the infero-temporal bulbar conjunctiva over a period of 2 years. There was no of ocular trauma or surgery and no effect on vision. The mass was not tender, raised, and mobile with fine intrinsic vascularity. Excisional biopsy with the presumed diagnosis of lymphoma revealed a typical sub-conjunctival myxoma. DISCUSSION: The recognition of ocular myxoma necessitates systemic evaluation to rule out possible associated cardiac myxoma in Carney complex, thus can prevent life-threatening events. The excised mass in our patient showed an area of pseudo-elastotic degeneration, which has further complicated the clinical appearance of the lesion, however, the color, and consistency of the mass were highly suspicious of lymphoma. The diagnosis of myxoma by histopathology was helpful especially in presence of atypical appearance such as in our case. CONCLUSION: The histopathological characteristics of conjunctival myxoma can aid in the diagnosis. The lesion in our case was associated with focal severe pseudo-elastotic degeneration and prominent salmon-patch appearing area thus was initially misdiagnosed clinically as a conjunctival lymphoma.

Granular Parakeratosis With Spontaneous Resolution: A Case Report.

Granular parakeratosis (GP) is a rare, idiopathic, and self-limiting cutaneous disorder. It clinically presents as erythematous to brown hyperkeratotic or scaly papules that can coalesce to form plaques. If GP is suspected clinically, histopathological confirmation is adequate for diagnosis. Several treatment modalities were tried with varying success, but none was consistently efficacious. Given the rarity of GP and the variety in its clinical presentation and management, we report a case of a self-resolving infra-abdominal GP. Our patient is a 47-year-old female who presented with a one-week history of asymptomatic, multiple, linear, horizontal, brown, hyperpigmented scaly papules in the infra-abdominal fold. She had a three-year history of applying almond oil and Sudocrem Antiseptic Healing Cream®. Histopathology showed the retention of basophilic keratohyalin granules within the area of parakeratosis in the stratum corneum, which is consistent with GP. She was discharged on emollients, and on follow-up one month later, her lesions completely resolved. In conclusion, GP is a rare cutaneous disorder characterized by hyperkeratotic plaques or papules typically on intertriginous areas. The natural history of the disease may vary from spontaneous resolution to a waxing and waning condition. In addition, given how uncommon the disease is and its variable etiologies and course, definite management is yet to be established and a standardized treatment recommendation is lacking.

Atypical Palmar Involvement with Erythema Elevatum Diutinum as a Sole Manifestation: A Report of Two Cases.

Erythema elevated diutinum (EED) is a rare distinctive form of cutaneous leukocytoclastic vasculitis. EED typically presents with asymptomatic symmetrical erythematous-brown papules, nodules or plaques which favor the extensor aspect of extremities while distinctly sparing the palms. We report two cases of EED with a rare presentation limited to the palms.