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.

Schistosomiasis, a snail-borne disease caused by infection with a trematode parasite of the genus Schistosoma, is one of the most neglected tropical diseases in the world. One of its rare complications is hepatosplenic schistosomiasis which ultimately leads to fibrosis and presinusoidal portal hypertension.

We report a case of a 13-year-old Filipino male from Quezon City with previous one year residence in the endemic island of Leyte, presenting with melena. Diagnostic work-up revealed hepatosplenomegaly and periportal fibrosis with multiple hepatic nodules on ultrasound, positive Schistosoma japonicum eggs on Kato-Katz stool examination technique, and findings of esophageal varices on upper endoscopy. The patient was managed with praziquantel, propranolol, and endoscopic rubber band ligation of the esophageal varices, with note of resolution of bleeding, and improvement on sonographic liver findings.

The degree of liver fibrosis from schistosomiasis is affected by poorly understood mechanisms which affect its severity, progression, and complications, regardless of biosocial factors including egg burden and duration of parasite exposure. This is the first case report on a Filipino adolescent to document significant interval improvement, within four weeks of treatment, of the characteristic fibrotic pattern in hepatosplenic schistosomiasis. Hepatosplenic schistosomiasis is still often missed out as the diagnosis in patients who consult with common symptoms, and high index of suspicion is recommended for those with history of residence in endemic areas. Likewise, treatment focusing on parasite eradication can aid in promptly addressing the resulting fibrosis and its complications.

INTRODUCTION

Adolescent pregnancy is enduringly perceived as posing a considerable social threat in the Philippines. Recent data from the Commission on Population and Development shows that over 40,000 births annually are from adolescent mothers aged 10 to 14 years, with many of these early pregnancies potentially linked to rape, forced sex, and abuse. Most studies in the past focus on causes and prevention. Limited research explores the lived experiences of early adolescent mothers, especially in the context of unwanted pregnancies.

This study was conducted to determine the lived experiences of unwanted pregnancy among early adolescents age 12 to 15 years old in Zamboanga City.

The study employed an Interpretative Phenomenological Study Design which involved understanding how the adolescents make sense of events, emotions, and interactions in their experiences. Ten (10) adolescent girls with experience of unwanted pregnancy were interviewed.

Analysis of transcripts generated three superordinate themes: (1) Living in the challenges of the present, (2) Facing the future with resilience, (3) Escaping the past. After identifying similarities across cases, two cross-case themes were generated: (1) Dysfunctional family background as a contributor to early pregnancy, and (2) The importance of relying on significant others for support.

The study revealed that unwanted pregnancies were influenced by dysfunctional family environments, socioeconomic challenges, and, in some cases, sexual exploitation. The participants faced emotional distress, financial instability, and social stigma, with support from family playing a critical role in the coping process. Despite the initial adversity, participants demonstrated resilience, finding ways to endure, adapt, and thrive.

Endometriosis is defined as the presence and growth of the glands and stroma of the lining of the uterus in an aberrant or heterotopic location. The cause of endometriosis is uncertain and involves many mechanisms including retrograde menstruation, vascular dissemination, metaplasia, immunologic, and hormonal influences to name a few. Primary umbilical endometriosis is a rare disorder defined as the presence of ectopic endometrial tissue within the umbilicus. It commonly presents with catamenial pain and bleeding from an umbilical nodule. It is a rare condition and treatment has not been standardized yet due to the limited number of cases. Surgical management is the treatment of choice to avoid local recurrence while hormone therapy may be used preoperatively for symptomatic relief. This paper reports a series of recently observed cases of primary umbilical endometriosis with main aim of discussing the different approaches in the management of this rare condition.

BACKGROUND

Maternal malnutrition is a major cause of low birth weight (LBW) newborn outcome especially among adolescent mothers. It is one of the key drivers of child stunting and initiates the vicious cycle of intergenerational malnutrition. The body mass index prior to pregnancy or at the initial trimester is currently being used to establish the desired weight gain throughout pregnancy. However, Filipino adolescents often delay their first antenatal visit at a later stage of pregnancy. Without a baseline weight, the establishment of appropriate weight gain and nutritional status is often challenging. Mid-upper arm circumference (MUAC) was proven to be a good proxy measure of acute malnutrition, however, there was no global consensus on what MUAC cut-off point to use to identify pregnant adolescents at risk for delivering LBW babies. Finding the optimal cut-off could facilitate early identification and intervention of pregnant adolescents who are nutritionally at risk and could eventually break the cycle of intergenerational malnutrition.

The study aims to determine the association of maternal MUAC and the birth weight outcomes among newborn deliveries of adolescents in a tertiary hospital for a period of six months and to identify the optimal maternal MUAC cut-off point that can be used to predict low birth weight outcome among newborn deliveries of adolescents in a tertiary hospital.

A cross-sectional study was conducted among adolescents ages 10 to 19 years who delivered babies in a tertiary hospital in the Philippines for a period of six months. Maternal MUAC and LBW outcome were documented, and their association was determined using a logistic regression analysis. To measure diagnostic accuracy, the sensitivity, specificity, and the area under the curve were taken for each MUAC point. A receiver operating characteristic (ROC) curve was used to aid the MUAC cut-off determination.

Out of 237 newborn deliveries, 35% were noted with low birth weight while 65% had normal birth weight. Most of the mothers were in their late adolescence at 78%. The crude association for the MUAC cut-offs ≤23.00 cm, ≤23.50 cm, and ≤24.00 cm and LBW showed a significant value of 2.19, 2.25, and 2.39 at 95% CI, respectively. However, it is only the cut-off ≤24.00 cm that showed significant results for adjusted association by the logistic regression analysis. The MUAC cut-off ≤24.00 cm also showed a better trade-off value between the sensitivity and specificity. Furthermore, the optimal maternal MUAC measurement that predicts LBW newborn outcome points to ≤24.00 cm cut-off based on the ROC curve.

This study shows that the maternal MUAC is predictive of LBW outcome among adolescent deliveries.A MUAC cut-off of ≤24.00 cm was superior to lower cut-offs studied. The pregnant adolescents might need a higher MUAC cut-off than adults to allow timely intervention and prevention of poor neonatal outcomes. By doing this simple screening test, suspected pregnant adolescents can be easily identified and referred for further confirmatory testing.

BACKGROUND AND OBJECTIVE

Foreign body (FB) ingestion is a common pediatric concern in the Philippines, but local studies on flexible endoscopic management are lacking. This study aimed to describe the clinical profile and outcomes of children referred for flexible endoscopic management and identify factors associated with poor outcomes.

This retrospective cohort study included 145 patients agedRESULTS

Most FB ingestions (96.55%) were accidental, with coins as the most common FB (56.55%). Patients were admitted an average of 40.42 hours post-ingestion and referred for endoscopy within 9.28 hours. Flexible endoscopy was performed in 44.83% of cases, with a 98.46% success rate and an average procedure time of 32.25 minutes. Spontaneous passage occurred in 50.34% of cases. Poor outcomes were linked to age 48 hours; OR: 15.43, p = 0.0181), and prolonged procedures (>30 minutes; OR: 12, p = 0.0318). Good outcomes were associated with unremarkable physical exams (OR: 0.078; p = 0.0018), early admission (CONCLUSION

Flexible endoscopy is effective and safe for FB extraction in children. Early admission and timely intervention significantly improve outcomes, while delays and prolonged procedures increase the risk of complications.

BACKGROUND

Six-pyruvoyl-tetrahydrobiopterin synthase (6-PTPS) deficiency is an inherited metabolic disorder which results in tetrahydrobiopterin (BH4) deficiency causing hyperphenylalaninemia.

This study aimed to describe the clinical, biochemical, and radiologic profiles, and neurologic and developmental outcomes of patients diagnosed with 6-pyruvoyl tetrahydrobiopterin (PTPS) deficiency through newborn screening and confirmed by BH4 loading test, pterin analysis, and gene sequencing who were following-up with the metabolic team.

The research was a single-center descriptive case series study design that was done at the Philippine General Hospital, a tertiary government hospital. The clinical, biochemical, radiologic profiles and neurodevelopmental evaluation of each patient were described.

Nine patients from 1 year 2 months to 14 years 5 months of age were enrolled in the study. Clinical manifestations before treatment were hypotonia, poor suck, and seizure. The most common clinical manifestation even after treatment initiation was seizure. The mean phenylalanine level on newborn screening was 990.68 umol/L, but after treatment was started, mean levels ranged from 75.69 to 385.09 umol/L. Two of the patients had focal atrophy of the posterior lobe on brain imaging. Pathogenic variants on molecular analysis were all missense, with two predominant variants, c.155A>G and c.58T>C. Eight of the nine patients had varying degrees of developmental delay or intellectual disability, while the remaining patient had signs of a learning disorder.

Newborn screening has played a crucial role in the early identification and management of patients with hyperphenylalaninemia due to 6-PTPS deficiency. Confirmation of diagnosis through determination of DHPR activity, urine pterins and/or molecular analysis is necessary for appropriate management. However, despite early initiation of treatment, neurodevelopmental findings of patients with 6-PTPS deficiency were still unsatisfactory.