OBJECTIVE: To explore the genetic basis of a child with Chanarin-Dorfman syndrome (CDS) manifesting as ichthyosis. METHODS: A child who had presented at Henan Provincial People's Hospital in June 2023 was selected as study subject. Clinical data of the child was collected. Peripheral blood samples were collected from the child and her parents. Following extraction of genomic DNA, whole-exome sequencing (WES) was carried out. Candidate variants were verified by Sanger sequencing. Relevant literature was searched in databases using key words "Chanarin-Dorfman syndrome" and "ABHD5 gene". The clinical manifestations and variant sites of previously reported cases were compiled and analyzed for correlations. This study was approved by the Medical Ethics Committee of Henan Provincial People's Hospital [Ethics No.: (2019) Jun Shen No. (134)]. RESULTS: WES revealed that the child has harbored compound heterozygous variants of the ABHD5 gene, namely c.99_103del (p.H34*) in exon 2 and c.770C>G (p.P257R) in exon 5, which were inherited from her father and mother, respectively. Bioinformatic analysis suggested that both variants were pathogenic. Literature review indicated that the affected organs in CDS are ranked from most to least including liver, eyes, ears, nervous system, muscles, spleen, and kidneys. The c.594insC and c.594dupC variants are most common. CONCLUSION The identification of the two novel ABHD5 gene variants has enriched the mutation spectrum of CDS. c.594insC or c.594dupC are hotspot mutations of this disease, albeit with no definitive correlation between the genotype and phenotype.
Humans ; Female ; Ichthyosiform Erythroderma, Congenital/genetics* ; Lipid Metabolism, Inborn Errors/genetics* ; Phenotype ; 1-Acylglycerol-3-Phosphate O-Acyltransferase/genetics* ; Mutation ; Muscular Diseases/genetics* ; Exome Sequencing ; Child ; Male ; Child, Preschool

Erythrodermic psoriasis is the least common and most severe variant of psoriasis manifesting as erythema and scaling affecting more than 75% body surface area. Infections, such as COVID-19, are proposed triggers due to provoking immune responses that can progress into a hyperinflammatory state. We present a case of a patient with a history of psoriasis evolving into an erythrodermic form after infection with COVID-19 virus.

A 50-year-old female, clinically diagnosed with plaque type psoriasis for 12 years, sought emergency consult then was admitted due to persistence of generalized erythematous scaly plaques, with accompanying skin and joint pains as well as high grade fever. Definitive diagnosis was done with clinicopathologic correlation including dermoscopy and skin punch biopsy. The patient’s Psoriasis Area and Severity Index (PASI) was 70.2, indicating severe score. SARS-COV-2 RT-PCR was done, revealing a positive result for the causative agent of COVID-19. A multidisciplinary approach to treatment was done with dermatology, rheumatology, and infectious disease services. Medications include antibiotics, antimetabolites, pain medications, and topical steroids. The patient was discharged then would follow-up with the dermatologist with phototherapy and with the rheumatologist. After completing treatment, most lesions have recovered.

Erythrodermic psoriasis is a severe and uncommon form of psoriasis that may be exacerbated by various infections such as COVID-19. Proper history, physical examination, and use of diagnostic procedures can aid in pinpointing the cause of the disease which will be indispensable in managing such patients.

A 4-year-old female with Congenital Hemidysplasia with Ichthyosiform erythroderma and Limb Defects (CHILD) syndrome, with a pathogenic variant of the NSDHL gene, c.130G>A (p.Gly44Ser), and unilateral right-sided erythematous verrucous plaques with scaling and ipsilateral limb defects, was started on 5% simvastatin ointment. It was applied twice daily for four months, with improvement already seen starting week 2. Monotherapy with 5% simvastatin ointment was able to decrease the thickness of the verrucous plaques seen in our patient, highlighting that the accumulation of toxic metabolites may play a more crucial role in its disease pathogenesis.

INTRODUCTION: Exfoliative dermatitis is a potentially life- threatening inflammatory reaction that poses a significant risk for morbidity and mortality. Several underlying etiologies of this dermatologic condition include pre-existing dermatoses, drugs and malignancy. Although it is a common disease entity, local studies on exfoliative dermatitis published in literature are very limited. OBJECTIVE: The primary objective of this study is to determine the epidemiological profile of patients with exfoliative dermatitis diagnosed at University of Santo Tomas Hospital Dermatology department from January 2008 to December 2012. METHODS: Inpatient and outpatient clinical records of patients diagnosed and treated as exfoliative dermatitis were retrieved. The prevalence, clinical presentation, history of previous dermatoses or use of any drugs/topical medications, family history and accompanying systemic symptoms were reviewed and analyzed. RESULTS: A total of 67 patients were included in this retrospective study. The prevalence among patients with exfoliative dermatitis in this study was computed at 1 per 1000 dermatologic patients. The highest number of cases belonged to the group aged seventy-one to seventy-nine (25.4%) with a mean age of 56.62 years. There was a male predilection (65.7%). Clinical presentation of patients included pruritus, generalized scaling and erythema, accompanied by bipedal edema (41.8%), chills (22.4%), fever (T ≥ 38 °C), lymphadenopathies (6%) and joint pains (4.5%). Several etiologic factors of exfoliative dermatitis recorded were: pre-existing dermatosis (67.2%), idiopathic or undetermined causes (19.4%), drug-induced (10.4%) and malignancy (3%). CONCLUSION: Exfoliative dermatitis is a condition more commonly found in the older age group. Pre-existing dermatoses, drugs and malignancy are etiologic factors. The most common pre-existing dermatosis causing exfoliative dermatitis in this study is psoriasis while the most implicated drug is allopurinol.
Dermatitis, Exfoliative

OBJECTIVE: To explore the genetic cause for a child with congenital ichthyosis. METHODS: The child was subjected to next generation sequencing using a specific gene panel. Suspected mutation was validated by Sanger sequencing. RESULTS: The proband was found to harbor compound heterozygous mutations c.327delG (p.Met109Ilefs*2) and c.791G>A (p.Arg264Gln) of the TGM1 gene, which were respectively inherited from his mother and father. The same mutations were not found among 101 healthy controls. c.327delG was not reported previously. By bioinformatic analysis, both mutations are likely to impair the function of TGase-1 protein. CONCLUSION The compound heterozygous mutations of c.327delG and c.791G> A of the TGM1 gene probably underlie the ichthyosis in the proband. The result has facilitated prenatal diagnosis for this pedigree.
Female ; Humans ; Ichthyosiform Erythroderma, Congenital ; genetics ; Infant, Newborn ; Mutation ; Pedigree ; Phenotype ; Pregnancy ; Transglutaminases ; genetics

No abstract available.
Dermatitis, Exfoliative ; Phototherapy ; Psoriasis

Antirheumatic Agents ; adverse effects ; Dermatitis, Exfoliative ; Humans ; Hydroxychloroquine ; adverse effects ; Lupus Erythematosus, Systemic ; drug therapy ; Psoriasis ; chemically induced

BACKGROUND: Imatinib mesylate is an inhibitor of the tyrosine kinase Bcr–Abl and a first-line treatment for Philadelphia chromosome-positive chronic myeloid leukaemia (CML). Dermatological side effects include superficial oedema, pustular eruption, lichenoid reactions, erythroderma, and skin rash. Depigmentation of the skin and/or mucosa is uncommon, and hyperpigmentation is rare. CASE PRESENTATION: We present the case of a 63-year-old Caucasian male with widespread hyperpigmentation of the hard palate associated with a 9-year history of imatinib therapy to treat CML. He did not complain of any symptoms. Clinical examination did not reveal any abnormal pigmentation of the skin or other region of the oral mucosa. He did not smoke cigarettes or drink alcohol. His medication regimen was a proton pump inhibitor, a beta-blocker, cardioaspirin, atorvastatin, and imatinib 400 mg/day. Histopathologically, melanin and haemosiderin deposits were evident in the lamina propria. The lesion persisted, with no clinical change, through several follow-ups. We reviewed the literature to explore the possible relationship between oral hyperpigmentation and long-term imatinib mesylate treatment. CONCLUSIONS: We diagnosed oral pigmentation associated with imatinib intake based on the medical history and clinical features of the pigmented macules. Oral pigmentation may have a variety of causes, and differential diagnosis requires nodal analysis. Clinicians should be aware of possible oral mucosal hyperpigmentation in patients taking imatinib mesylate. Such pigmentation is benign and no treatment is needed, but surveillance is advisable.
Atorvastatin Calcium ; Dermatitis, Exfoliative ; Diagnosis, Differential ; Exanthema ; Follow-Up Studies ; Humans ; Hyperpigmentation* ; Imatinib Mesylate* ; Lichenoid Eruptions ; Male ; Melanins ; Middle Aged ; Mouth Mucosa ; Mucous Membrane* ; Palate, Hard* ; Pigmentation ; Protein-Tyrosine Kinases ; Proton Pumps ; Skin ; Smoke ; Tobacco Products

The development of cutaneous sarcoidosis as a paradoxical adverse event of tumor necrosis factor alpha (TNF-α) blockers has been reported in the literature; however, an erythrodermic form of cutaneous sarcoidosis during anti-TNF-α therapy has not yet been reported. Herein, we report the first case of an erythrodermic form of cutaneous sarcoidosis during anti-TNF-α therapy and review previous studies of cutaneous sarcoidosis. A 6-year-old Korean girl who had been suffering from juvenile rheumatoid arthritis presented with generalized erythematous skin eruption involving more than about 90% of her body surface area. After 14 months of etanercept treatment, the new erythematous skin eruption had developed and progressed into generalized erythroderma. Exclusion of suspected co-medication had been performed based on medication history. She had no other systemic symptoms, and ophthalmologic and neurologic examinations were normal. Histopathologic findings of the skin lesion revealed diffuse non-caseating granulomatous infiltrates composed of epithelioid histiocytes with sparse lymphocytes involving the entire dermis. Periodic-acid-Schiff and acid-fast stains were negative, and acid-fast bacilli was not detected by polymerase chain reaction of the skin biopsy. Based on clinicopathologic findings, she was diagnosed with etanercept-induced sarcoidal granuloma. After discontinuation of the suspected agent, the lesions spontaneously disappeared.
Arthritis, Juvenile* ; Biopsy ; Body Surface Area ; Child ; Coloring Agents ; Dermatitis, Exfoliative ; Dermis ; Etanercept ; Female ; Granuloma ; Histiocytes ; Humans ; Lymphocytes ; Neurologic Examination ; Polymerase Chain Reaction ; Sarcoidosis* ; Skin ; Tumor Necrosis Factor-alpha*

The development of cutaneous sarcoidosis as a paradoxical adverse event of tumor necrosis factor alpha (TNF-α) blockers has been reported in the literature; however, an erythrodermic form of cutaneous sarcoidosis during anti-TNF-α therapy has not yet been reported. Herein, we report the first case of an erythrodermic form of cutaneous sarcoidosis during anti-TNF-α therapy and review previous studies of cutaneous sarcoidosis. A 6-year-old Korean girl who had been suffering from juvenile rheumatoid arthritis presented with generalized erythematous skin eruption involving more than about 90% of her body surface area. After 14 months of etanercept treatment, the new erythematous skin eruption had developed and progressed into generalized erythroderma. Exclusion of suspected co-medication had been performed based on medication history. She had no other systemic symptoms, and ophthalmologic and neurologic examinations were normal. Histopathologic findings of the skin lesion revealed diffuse non-caseating granulomatous infiltrates composed of epithelioid histiocytes with sparse lymphocytes involving the entire dermis. Periodic-acid-Schiff and acid-fast stains were negative, and acid-fast bacilli was not detected by polymerase chain reaction of the skin biopsy. Based on clinicopathologic findings, she was diagnosed with etanercept-induced sarcoidal granuloma. After discontinuation of the suspected agent, the lesions spontaneously disappeared.
Arthritis, Juvenile* ; Biopsy ; Body Surface Area ; Child ; Coloring Agents ; Dermatitis, Exfoliative ; Dermis ; Etanercept ; Female ; Granuloma ; Histiocytes ; Humans ; Lymphocytes ; Neurologic Examination ; Polymerase Chain Reaction ; Sarcoidosis* ; Skin ; Tumor Necrosis Factor-alpha*