No abstract available.
Chromosomes, Human, Pair 13 ; Vitiligo*

Mosaic trisomy 13 is estimated to occur in 5% of all trisomy 13 cases. Presentation of trisomy 13 mosaicism is highly variable, with cases that may present with a normal phenotype and intellectual function, to cases with grossly abnormal features and profound developmental delays. We present a 2-year-old female with trisomy 13 mosaicism, who presented with small for gestational age (SGA), polydactyly, ventricular septal defect (VSD), and poor oral feeding.
Trisomy 13 Syndrome ; Genetic Counseling

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.

Objective:To report a case of retrograde cricopharyngeal dysfunction (R-CPD) and the use of
botulinum toxin injection for its diagnosis and therapy.

Methods:
Design:Case Report
Setting:Tertiary Private University Hospital
Patient:An 18-year-old female college student who presented with inability to burp, associated with awkward gurgling noises from the chest, abdominal discomfort and excessive flatulence.

Results:Our patient gained the ability to belch and the relief of associated excessive flatulence and awkward gurgling noises from the chest, after cricopharyngeal muscle Botulinum toxin injection.

Conclusion:Botulinum toxin injection may serve as both a diagnostic and therapeutic intervention for R-CPD.

Asthma is a chronic allergic inflammatory disease of lung. The initiation and progression of asthma is dependent on the cytokines interleukin (IL) -4 and IL-13 acting through related receptor complexes. Disease pathogenesis is effected by intracellular signaling pathways that couple primarily to specific motifs within the intracellular domain of the IL-4 receptor alpha chain (IL-4R alpha), a subunit that is common to the IL-4 and IL-13 receptor complexes. Neutralizing anti-cytokine strategies have proven to be highly successful on dissecting relevant effector pathways in experimental allergic disease, and are now entering clinical trials in human allergic disorders. Although there have been only a few clinical studies on the effects of cytokine modulators in asthma, this line of research and development appears promising.
Asthma* ; Cytokines ; Humans ; Interleukin-13 ; Interleukin-4 ; Interleukins ; Lung ; Receptors, Interleukin-13 ; Receptors, Interleukin-4

Chromosome Disorders ; Chromosomes, Human, Pair 13 ; Humans ; Infant ; Male ; Trisomy ; Trisomy 13 Syndrome

T helper-type 2 cytokines, such as IL-4 and IL-13, may play a central role in allergic diseases. The protein known as signal transducers and activators of transcription 6 (STAT6) is a key transcription factor involved in both IL-4- and -13-mediated biological responses. Two polymorphisms of the STAT 6 gene (exon 1 and G2964A variant) have been found. We investigated whether these STAT6 gene polymorphisms were associated with allergic rhinitis. Blood samples for genetic analysis were obtained from 285 individuals with allergic rhinitis and from 271 healthy subjects without atopic disease. The G2964A variant of the STAT6 gene was genotyped using PCR-RFLP analysis. The GT repeat polymorphism in exon 1 of the STAT6 gene was genotyped by fragment analysis. There was no association between the 2964A variant and GT repeat polymorphism in exon 1 of the STAT6 and allergic rhinitis in a Korean population (both p > 0.05). Our results suggest that a combination of STAT6 gene polymorphisms is not a useful marker for predicting allergic rhinitis.
Cytokines ; Exons ; Interleukin-13 ; Interleukin-4 ; Rhinitis* ; Transcription Factors ; Transducers

Chronic spontaneous urticaria (CSU) is a complex idiopathic disease of the skin with various cellular infiltrations. Although mast cells are key effector cells in the pathogenesis of CSU, CD4+ T helper 2 cells also have particular roles in the development and maintenance of CSU. Periostin is known as a downstream molecule of interleukin (IL)-4 and IL-13, key cytokines of type 2 immune responses. In this study, we examined periostin and IL-13 levels in the sera of patients with CSU (n=84) and healthy normal controls (NCs, n=43). Periostin levels were significantly lower in the CSU group than in NCs (71.4±21.8 vs 85.1±22.4 ng/mL, P=0.04). Periostin levels were also lower in the severe CSU group than those in mild CSU (59.7±18.0 vs 73.4±22.0 ng/mL, P=0.04). However, IL-13 levels were significantly higher in patients with CSU than in NCs (508.5±51.2 vs 200.7±13.3 pg/mL, P=0.001). In conclusion, periostin and IL-13 may be independently related to the pathogenesis of CSU.
Cytokines ; Humans ; Interleukin-13* ; Interleukins ; Mast Cells ; Skin ; Urticaria*

Chromosomes, Human, Pair 13 ; Female ; Humans ; Infant, Newborn ; Trisomy ; genetics

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.