Epidermal nevus syndromes (ENS) are a group of complex disorders characterized by the presence of epidermal hamartomas in association with extracutaneous manifestations involving numerous organ systems. The diseases included within the spectrum of ENS are quite rare and specific molecular defects have been elucidated in only a few cases. An epidermal nevus syndrome with a mutation of the ZMYM2 gene has not been reported to the best of our knowledge.

This is a case of a 17-year-old female who presented at birth with prominent skeletal deformities and multiple erythematous verrucous papules and plaques in a blaschkoid distribution on the back and extremities, increasing in size and number as the patient grew. The patient was also noted to have delayed gross motor and speech milestones as well as marked mixed hearing loss on both ears. Histologic findings of the skin lesions were consistent with Verrucous Epidermal Nevus. Further imaging workups revealed the presence of bilateral diminutive kidneys. Whole exome sequencing by orthogonal method (Sanger sequencing) was performed revealing a likely pathogenic variant of the ZMYM2 gene, a gene which as of writing, has not been associated with any epidermal nevus syndrome.

We provide the first evidence of the possibility of involvement of the gene ZMYM2 in ENS. Considering the detected variant does not fully explain the patient’s phenotype, proceeding to genome sequencing and performing targeted testing by next generation sequencing on the affected tissue to assess the mosaicism of the detected variant is highly considered.

Bullous pemphigoid (BP) is the most common autoimmune blistering disorder in the elderly but is rare in children. Pediatric BP often presents with dramatic features, including eczematous plaques and tense bullae, accompanied by intense pruritus and occasional mucosal involvement. Despite its rarity, BP should be considered in differential diagnoses due to its varied presentations.

An 18-year-old Filipino male presented with intermittent fever followed by multiple erythematous pruritic plaques on his extremities, which later spread to the head and trunk. Generalized tense vesicles and bullae developed on top of existing plaques, accompanied by severe pruritus. Nikolsky and Asboe-Hansen signs were negative. Lesions eventually covered the entire body, including the oral mucosa. Self-medication with herbal concoctions worsened the condition, causing erosion and plaque thickening. Lab tests showed leukocytosis with eosinophilia and extremely elevated serum IgE level. Histopathology revealed subepidermal split with eosinophils, and direct immunofluorescence confirmed BP with 1+ IgG and 2+C3 deposits in the basement membrane zone. Anti-BP180 ELISA was positive. The patient was treated with intravenous hydrocortisone, then transitioned to oral prednisone (40 mg daily, tapered), leading to complete resolution of lesions with no recurrence.

Pediatric bullous pemphigoid, rare in late childhood, mirrors adult cases but with more acral distribution and mucosal involvement. Elevated IgE levels may correlate with disease activity, prompting further study of risk factors and triggers. A collaborative approach is crucial for managing physical and social challenges, improving quality of life.

Psoriasis may manifest as severe hyperkeratotic lesions resembling an oyster shell called ostraceous psoriasis. This type of psoriasis is extremely rare and is often associated with psoriatic arthritis. Psoriatic arthritis is a chronic inflammatory disease of the joints presenting with pain, stiffness, swelling, tenderness, and limited movements. This is a case of a 16-year-old Filipino female presenting with pruritic erythematous plaques topped with thick adherent ostraceous scales associated with bilateral knee and elbow pains. Laboratory tests and biopsy were done. Histopathology is consistent with psoriasiform dermatitis and psoriatic arthritis is established through Early Psoriatic Arthritis (EARP) Screening Questionnaire and Classification Criteria for Psoriatic Arthritis (CASPAR). Patient was started on potent topical corticosteroids and Narrow-band Ultraviolet B (NB-UVB) phototherapy with minimal improvement. Hence, Secukinumab was initiated which showed significant improvement on the skin lesions and joint pains 7 days after the first dose of Secukinumab. Ostraceous psoriasis is rarely found in pediatric population. It is commonly associated with psoriatic arthritis that should be screened during routine consult. Its characteristic firmly adherent thick scales are resistant to topical treatments. One of the therapeutic options is Secukinumab, an IL-17A selective inhibitor targeting the release of proinflammatory cytokines, chemokines and mediators of tissue damage. It demonstrates immediate effect, significant and sustained improvement in the skin lesions, minimal adverse reactions, as well as improved quality of life and physical function. It is therefore a preferred treatment for patients with moderate to severe psoriasis and psoriatic arthritis requiring rapid clearance.

Darier disease is an autosomal dominant skin condition characterized histologically by acantholysis due to mutations in the ATP2A2 gene. This commonly presents in seborrheic distribution as greasy, yellow-brown keratotic papules. Presenting a case of a 14-year-old male, who experienced progressive red to brown scaly rashes which started on the face progressing to the trunk and inguinal areas in a seborrheic distribution with nail brittleness. Treatment included topical corticosteroids and retinoids, leading to gradual improvement. Management emphasizes the importance of avoiding triggers and highlighting the significance of early intervention and eventual multidisciplinary support.

Erythema elevatum diutinum (EED) is a rare, chronic leukocytoclastic vasculitis characterized by erythematous to violaceous plaques and nodules, typically on extensor surfaces like the hands, elbows, and knees. It results from immune complex deposition in blood vessels, leading to inflammation and fibrosis. EED is often associated with infections, autoimmune disorders, or hematologic malignancies, but can also occur idiopathically. Although globally documented, EED is extremely rare in the Philippines, particularly in adolescents, highlighting its significance in local literature.

A 14-year-old Filipino female presented with a 5-month history of asymptomatic, skin-colored papules on her right elbow, gradually spreading to both elbows and knees, with occasional mild pruritus and knee joint pain. Past medical and family history were unremarkable. After temporary relief from an unrecalled cream prescribed by a private dermatologist, she was referred for skin punch biopsy, which revealed spongiotic epidermis with papillary dermal edema, moderate inflammatory infiltrates, eosinophilic inclusion bodies, and nuclear dusts surrounding the blood vessels, consistent with EED. The patient was treated with dapsone 50 mg/day, clobetasol propionate ointment twice daily for two weeks, and cetirizine 10 mg as needed for pruritus, resulting in clinical improvement.

This case highlights the extreme rarity of EED in the Philippines, particularly in adolescents. It emphasizes the need to consider EED in chronic papular eruptions and demonstrates the effectiveness of dapsone and topical steroids in managing the condition. Early diagnosis and timely intervention are crucial for preventing disease progression and improving patient outcomes, as seen in this case.

Disorders of sex development (DSD) are characterized by atypical development of chromosomal, gonadal, or phenotypic sex. 45X,46XY mosaicism is a type of sex chromosome DSD which presents with a wide heterogeneity of manifestations. We report the case of a 13-year-old phenotypically female who presented with clitoromegaly at puberty. Testosterone level was elevated on serology. Out of the 50 cells examined, 43 cells had Monosomy X while 7 cells had a normal male karyotype. She was managed by a multidisciplinary team. Due to the presence of Y chromosome, the solid nodular structure seen on the right gonad in magnetic resonance imaging and the pain caused by the phallus, Laparoscopic bilateral gonadectomy, salpingectomy and clitoroplasty were done after a shared decision making. Histopathology revealed Gonadoblastoma and Germ cell neoplasia-in-situ of the right gonad justifying timely removal. She was then maintained on estrogen for induction of secondary sexual characteristics.

Cutaneous tuberculosis is a rare form of extrapulmonary tuberculosis seen in 1% of all cases. Lupus vulgaris is one of the most common types of cutaneous tuberculosis. Its cutaneous patterns may mimic other dermatologic conditions such as pyoderma gangrenosum. Clinical, diagnostics and histopathologic correlation is important in diagnosing lupus vulgaris.

This is a case of a 17-year-old Filipino male with multi-drug resistant Pulmonary Tuberculosis who presented with three-months history of erythematous papule that gradually progressed into plaque on the scalp, abdomen and left popliteal area with associated pruritus 5/10. The initial working diagnosis was cutaneous tuberculosis versus pyoderma gangrenosum. Incision biopsy revealed a granulomatous dermatitis surrounded by a dense mixed cell infiltrate of lymphohistiocytes from superficial to mid dermis suggestive of an infectious process. Chest radiograph confirmed pulmonary tuberculosis, interferon gamma detection by enzyme linked immunosorbent assay (Quantiferon TB Gold Plus) and nucleic acid amplification test (GeneXpert TB) further verified the presence of Mycobacterium tuberculosis (MTB). The patient was managed as lupus vulgaris, plaque type and started on second line anti-Koch’s medications. Excellent clinical response was seen after 3 months of treatment.

Lupus vulgaris is a challenging disease and may mimic a myriad of other cutaneous disorders, in this case pyoderma gangrenosum. This case highlights a high index of suspicion, trained clinical eye and multi-specialty care to diagnose and treat complicated cutaneous tuberculosis cases. In geographic locations where MTB is still endemic and drug resistance burdens pose complications in treatment, second line pharmacologic interventions for MTB treatment is a viable option.

Cutaneous pseudolymphoma is a benign reactive lymphoproliferative skin disorder that can mimic cutaneous lymphoma. Clinical features include papules or indurated plaques that commonly affect the head and neck region and upper extremities. Various causative factors such as infectious agents, insect bites, vaccines, foreign bodies such as tattoos and drugs have been identified. Majority of the cases are idiopathic. Diagnosis is made by clinical assessment and careful histopathologic examination. Topical or intralesional steroids are the first-line therapy for persistent localized lesions.

This is a case of a 14-year-old male who presented with an 8-month persistent solitary violaceous to dusky red indurated plaque on the right distal ventral forearm. No trigger factors were identified. A skin biopsy with immunohistochemical staining (positively staining CD68, CD3 and CD20 T and B cells with no loss of CD7) revealed cutaneous lymphoid hyperplasia. Initial treatment with a topical steroid was unsuccessful, leading to the addition of intralesional steroid to the regimen. This resulted in partial improvement but did not prevent further plaque enlargement. Topical medication was then shifted to compounded 5-Fluorouracil cream which was applied twice daily for a duration of 18 months. In the first six months of treatment, the patient noted further decrease in size and flattening of the lesion with no reported adverse effects. A repeat biopsy after 18 months post- treatment revealed a marked reduction in lymphocytic infiltrates, indicating a favorable response to treatment.

The main goal of treatment in Cutaneous Pseudolymphoma is early disease recognition and prompt intervention. Topical 5- fluorouracil (5-FU) belongs to a class of medications known as anti-metabolites and has been used in the treatment of various recalcitrant benign and malignant skin tumors. Treatment efficacy of this case contributes to anecdotal evidence of topical 5-Fluorouracil in treating pseudolymphoma.

: Peripheral nerve block (PNB) has been successfully used as the sole anesthetic for Peritoneal dialysis (PD) catheter insertion, and has been shown to provide satisfactory anesthesia and analgesia perioperatively, especially among critically – ill patients. : This report describes the anesthetic management of an 18 – year old underweight patient with End-stage renal disease (ESRD) and decompensated heart failure who was scheduled for PD catheter insertion. He was given a left lateral Transversus abdominis plane (TAP) block and a right Rectus sheath (RS) block as the main anesthetic. Fifteen mL of Isobaric Bupivacaine 0.375% with Epinephrine 1:400,000 dilution was injected for the TAP block, and 10mL for the RS block, for a total volume of 25mL (93.7mg). Sedation was given via a Remifentanil infusion at 0.1mcg/kg/min. Intraoperatively, the patient was awake, conversant, and comfortable, no pressors were used, and no conversion to general anesthesia was done. Post-operatively, he had good pain control, with a pain score of 1/10, and successfully underwent dialysis via the PD catheter on the 2nd hospital day. : This pediatric patient who is critically ill is not a good candidate for general or neuraxial anesthesia due to the risk of hemodynamic instability and perioperative decompensation. PNB was done to provide anesthesia, and ensure good pain control post-operatively, and a right TAP and left RS were done instead of a bilateral TAP to lower the LA volume and decrease the risk of LA toxicity. Unilateral TAP with contralateral RS is a safe anesthetic technique among critically-ill pediatric patients who will undergo PD catheter insertion without the risk of hemodynamic instability with general or neuraxial anesthesia.
Human ; Male ; Adolescent: 13-18 yrs old ; End-stage Renal Disease (ESRD) ; kidney failure, chronic ; heart failure