The paper reports one case of primary cutaneous amyloidosis (PCA) treated by tapping with plum-blossom needle combined with sulfur ointment and local irradiation. PCA in this case was manifested as generalized erythema, papules, plaques, lichenification, and severe pruritus. In treatment, tapping with plum-blossom needle was delivered at typical lesions to induce local congestion, redness, and minimal bleeding. After cleaned with sterile gauze for 10 s, 25% sulfur ointment was evenly applied, followed by local irradiation with a TDP lamp for 15 min. This session was repeated twice a week. In 1 month of treatment, the lesions turned flat and the skin was soft as the normal, with pigmentation and mild pruritus left. In 3 months of follow-up, no papules recurred, and mild pruritus presented occasionally.
Humans ; Ointments/administration & dosage* ; Sulfur/administration & dosage* ; Skin Diseases, Genetic/radiotherapy* ; Middle Aged ; Amyloidosis, Familial/radiotherapy* ; Male ; Acupuncture Therapy/instrumentation* ; Female ; Combined Modality Therapy

Stiff skin syndrome is a very rare non-inflammatory reactive skin disease, characterized by skin sclerosis and limited joint mobility. The paper reports one case of child with stiff skin syndrome and treated with combined therapy of acupuncture and cupping. Acupuncture was used at the lateral line 1 of vertex (MS8) on the right side, Jiaji (EX-B2) of L₂ to L₄, Huantiao (GB30), ashi point, Juliao (GB29), Fengshi (GB31), Weizhong (BL40), and etc. on the left side. After deqi, the electrodes of KWD-808Ⅰimpulse electronic therapeutic device were attached to Jiaji (EX-B2) of L₄ and Huantiao (GB30), Fengshi (GB31) and Yanglingquan (GB34) on the left side respectively, at disperse-dense wave, a frequency of 2 Hz/100 Hz, and a current of 2 mA. The needles were retained for 20 min. Acupuncture was operated once every 2 days, 3 interventions a week. When acupuncture was completed in each intervention, moving cupping was followed till the skin turned to be red, along the distribution of the governor vessel, foot-shaoyang gallbladder meridian and foot-taiyang bladder meridian on the left side, of the lumbar region and leg. Moving cupping was delivered once every 2 days, 3 times a week. Once a week, after moving cupping, the cups were retained on the areas with skin stiffness for 8 min to 10 min. One course of the combined therapy of acupuncture and cupping was composed of 6 treatments. After 2 courses of treatment, the skin stiffness on the left buttock region and the lateral side of the lower limb was ameliorated, the swelling on the left lower limb relieved and the walking improved; and the patient could walk continuously for 2 000 m. The combined therapy of acupuncture and cupping provides a new idea for the clinical treatment of stiff skin syndrome.
Child ; Humans ; Acupuncture Points ; Acupuncture Therapy ; Contracture/therapy* ; Cupping Therapy ; Skin Diseases, Genetic/therapy*

This article reports a child with cardioaciocutaneous syndrome (CFCS) caused by a rare microdeletion of chromosome 19p13.3, and a literature review is conducted. The child had unusual facies, short stature, delayed mental and motor development, macrocephaly, and cardiac abnormalities. Whole-exome sequencing identified a 1 040 kb heterozygous deletion in the 19p13.3 region of the child, which was rated as a "pathogenic variant". This is the first case of CFCS caused by a loss-of-function mutation reported in China, which enriches the genotype characteristics of CFCS. It is imperative to enhance the understanding of CFCS in children. Early identification based on its clinical manifestations should be pursued, and genetic testing should be performed to facilitate diagnosis.
Humans ; Chromosome Deletion ; Chromosomes, Human, Pair 19/genetics* ; Ectodermal Dysplasia/genetics* ; Facies ; Failure to Thrive/genetics* ; Heart Defects, Congenital/genetics*

Case 1 was a 7-year-old girl; Case 2 was her 3-year-old younger brother. Both children developed pink urine shortly after birth and exhibited blistering on photo-exposed areas (face and hands), followed by ulceration, crusting, scarring, and joint contractures leading to impaired mobility. Genetic testing in both patients identified a homozygous variant in the UROS gene, c.776T>C (p.Leu259Pro), confirming autosomal recessive congenital erythropoietic porphyria due to UROS mutations. This case report highlights that congenital erythropoietic porphyria should be considered in infants and young children with unexplained hemolytic anemia, pink urine, and severe photosensitive dermatitis. Early genetic testing is recommended to facilitate timely intervention and improve outcomes.
Humans ; Porphyria, Erythropoietic/genetics* ; Female ; Child ; Child, Preschool ; Male ; Siblings ; Mutation ; Uroporphyrinogen III Synthetase/genetics*

Ectodermal dysplasia is a group of hereditary diseases characterized by developmental defects of ectodermal structures. Its oral manifestations mainly center on congenital missing teeth, abnormal tooth morphology, and maxillofacial bone developmental disorders, which seriously affect the masticatory function, maxillofacial development, and mental health of affected children. In this article, the multidimensional diagnostic strategy system for children with ectodermal dysplasia and the related progress of early oral prosthodontic treatment methods were systematically reviewed to provide references for clinicians in the diagnosis and treatment of children with ectodermal dysplasia.
Child ; Humans ; Anodontia ; Ectodermal Dysplasia/diagnosis* ; Prosthodontics ; Tooth Abnormalities/therapy*

Lamellar Ichthyosis (LI) is a rare autosomal recessive disorder caused by mutations in genes, primarily TGM1, that affect skin barrier formation. It results in large, hyperpigmented, plate-like scales covering the entire body and persists throughout life. This case illustrates the chronic and debilitating nature of LI, highlights therapeutic approaches that improve quality of life, and emphasizes the importance of genetic testing in managing the condition.

Patient A, a 25-year-old female, and Patient B, a 22-year-old male, are Filipino siblings from non-consanguineous parents with no notable family history. Both were born encased in a collodion membrane that later revealed generalized erythema with large scales and deep fissures. As they aged, symptoms worsened, including reduced sweating, heat intolerance, ectropion, eclabium, cicatricial alopecia, palmoplantar hyperkeratosis, limited finger movement, and blurred vision from corneal scarring. Whole exome sequencing identified a homozygous pathogenic variant in the TGM1 gene (Arg396Cys). Their parents are carriers, giving future offspring a 25% risk of inheriting the condition. Acitretin therapy at 0.2 mg/kg/day, combined with topical keratolytics, led to significant improvement in symptoms and quality of life within four weeks.

Accurate diagnosis of ichthyosiform disorders requires thorough clinical documentation, family history, physical examination, and genetic findings. Effective management of lamellar ichthyosis needs a multidisciplinary approach, focusing on improving quality of life by addressing physical discomfort and social challenges. Genetic testing, especially Whole Exome Sequencing (WES), is crucial for precise diagnosis, genetic counseling, and informed family planning.

Junctional Epidermolysis Bullosa (JEB) is a rare inherited blistering disorder characterized by extreme skin fragility. It is associated with COL17A1 mutation that is critical for dermoepidermal adhesion. Effective management in resource-limited settings is challenging and focuses on wound care and trauma prevention to prevent complications and improve quality of life.

A 27-year-old Filipino female presented with recurrent blisters and erosions since infancy, accompanied by diffuse alopecia and anonychia of the toenails. On physical examination, she presented with multiple, well-defined, erythematous tense vesicles and bullae on the trunk, upper and lower extremities which were triggered by minor trauma to the skin. Skin punch biopsy was done revealing a subepidermal blistering dermatosis while direct immunofluorescence (DIF) and Enzyme-Linked Immunosorbent Assay (ELISA) tests for BP180, BP230, and type VII collagen were negative. Genetic testing was done and revealed compound heterozygous mutations in the COL17A1 gene, consistent with JEB. She was managed with non-adhesive dressings, sterile aspiration of blisters, and nutritional support. Despite the severity of her condition, the patient experienced significant improvement in wound healing and quality of life through meticulous wound care, trauma prevention and nutritional support.

This case highlights the unusual case of a 27-year-old Filipino female with JEB who has survived into adulthood, a rarity given the typically poor prognosis associated with severe forms of the disease.

Dystrophic epidermolysis bullosa (DEB) is characterized by blisters that heal with scarring and milia formation, including nail dystrophy, with an incidence of 2.1 per million live births. DEB is derived from defects of the anchoring fibril which results in sublamina densa separation.

We report a one-month old female who presented with vesicles and erosions on bilateral feet at birth. New vesicles and bullae were noted on other areas of the body such as the scalp, ears, anterior trunk, gluteal area, and extremities which spontaneously ruptured leading to erosions and crusts. Nails were thick and yellowish black. Consult was done at a clinic and was given unrecalled antibiotic, antihistamine, and cream for one week. There was no noted improvement hence she was brought to another clinic, diagnosed as staphylococcal scalded skin syndrome, advised admission and subsequently referred to dermatology service. After clinical assessment, findings of cell poor subepidermal blister on histology, linear C3 on DIF, and positive collagen 7 on ELISA, patient was managed as a case of dystrophic epidermolysis bullosa.

Epidermolysis bullosa is an inherited genetic disease with mutation in COL7A1 gene manifesting as vesicles and bullae on trauma prone areas. The diagnosis is based on clinical, histopathology, immunofluorescence, antigen studies, and electron microscopy. Uniquely, immunofluorescence revealed strong linear deposition of C3 at the basement membrane zone which is more suggestive of bullous pemphigoid than epidermolysis bullosa. This case highlights the importance of early diagnosis and proper management of the disease to limit unnecessary intervention.

We report a case of a Filipino child who presented with yellowish hyperkeratotic plaques on the palms and soles with palmar transgredient extension to the wrists, a yellowish hyperkeratotic plaque over the coccygeal area, and brownish-black hyperkeratotic perianal plaques. Patient had delayed physical development and short stature, but no intellectual disability. Histopathologic examination showed palmoplantar keratoderma. These clinical findings of symmetrical palmoplantar keratoderma with periorificial keratotic plaques were consistent with Olmsted Syndrome. Oral retinoids with topical keratolytics afforded significant improvement with increased hand mobility. Although there is no curative management for these patients, current experimental therapies like epidermal growth factor receptor (EGFR) inhibitors and Transient Receptor Potential Vanilloid-3 (TRPV3) antagonists are promising. Olmsted Syndrome is a rare genodermatosis with 73 cases officially reported as of this writing. This is the first case to be reported from the Philippines.

Introduction: Epidermolysis Bullosa Pruriginosa (EBP) is a rare subtype of the inherited Dystrophic ~ Epidermolysis Bullosa spectrum of diseases and results from a gene mutation in COL7AL Though predominantly an autosomal dominant disease, autosomal recessive and even sporadic have been reported. Case Summary: Case Summary:We report a case of a 12-year-old Filipino male presenting with a chronic history of numerous scratching-induced blisters predominantly distributed on the extensor aspect of his arms and legs without concomitant oral lesions, nail dystrophy, or hair findings, and without a family history of similar lesions. Histopathologic assessment, Direct Immunofluorescence (DIF), and Indirect Immunofiuorescence (IIF) showed a subepidermal split with scant inflammatory infiltrates, no immunofluorescence, and absent userrated linear immunofluorescence at the dermal-side of the Salt Split Skin slide, respectively, which were all consistent with EBP. Enzyme-Linked Immunosorbent Assay (ELISA) for Anti-Collagen VII antibodies was slightly elevated, which may suggest an alternative diagnosis of Epidermolysis Bullosa Acquisita (EBA). This slight elevation may be due to the mutated Collagen Vil protein becoming antigenic and therefore provoking an immune response. To conclusively distinguish EBP from EBA, a COL7AI gene mutation analysis was recommended. With a diagnosis of EBP cannot totally rule out EBA, the patient was initially managed with dapsone monotherapy, counseled regarding behavioral modification to reduce scratching and trauma, advised wound care and close monitoring for the development of oropharyngeal lesions, and recommended for COL7A1 genetic mutation analysis. Conclusion This report demonstrates a case of EBP with elevated Anti-Collagen VII antibodies. The diistinction between EBP and EBA is important because this changes the management: EBP is largely supportive, while EBA may benefit from immunosuppressive therapy.
Epidermolysis Bullosa Pruriginosa ; Enzyme-Linked Immunosorbent Assay ; Epidermolysis Bullosa Acquisita