Cross-sectional nationwide epidemiologic survey on quality of life and treatment efficacy in Japanese patients with congenital ichthyoses.

BACKGROUND: Congenital ichthyoses sometimes present with severe skin symptoms that significantly affect the patient's quality of life (QOL). Symptomatic treatments are the mainstay therapies, and their efficacy is limited and inadequate. OBJECTIVE: To assess the disease severity and QOL in patients with congenital ichthyoses, and to investigate the effectiveness of current treatments. METHODS: We conducted a questionnaire-based Japan-wide epidemiological survey of patients with congenital ichthyosis who received medical care from 1 January 2016-31 December 2020. Effectiveness of past and current treatments was assessed. The outcomes were the physician's assessment, disease severity assessed using the clinical ichthyosis score (CIS), and the disease burden estimated using the Dermatology Life Quality Index (DLQI), the Children's Dermatology Life Quality Index (CDLQI), and the Infants' Dermatitis Quality of Life Index. RESULTS: One hundred patients with 14 ichthyosis subtypes from 47 institutes were included in the final analysis. The CDLQI score showed a positive correlation with CIS (rs = 0.59, p = 0.004), while the DLQI score showed no significant correlation (rs = 0.13, p = 0.33). All existing medications were effective for many patients. Etretinate improved QOL and reduced CIS, but side effects including bone growth retardation were reported. Decreased treatment willingness was observed in patients with very low and very high CIS. CONCLUSION: QOL scores were found to correlate with CIS in children, but not in adults. Considering the adverse events, it is speculated that etretinate is not indicated for children with mild cases. Petrolatum was the most commonly used medication, even in patients who were reluctant to receive treatment.

Generalized Verrucosis on a Background of 3C Syndrome Treated With Subcutaneous IgG Supplementation.

This case report describes a man in his 20s with 3C/Ritscher-Schinzel syndrome who presented to the dermatology department after developing multiple skin lesions.

Lysophospholipase D from Thermocrispum limits psoriatic inflammation by hydrolyzing epidermal lysoplasmalogen produced by group IIF secreted phospholipase A2.

Epidermal lipids play important roles in skin homeostasis and diseases. Psoriasis is an inflammatory disease characterized by keratinocyte hyperproliferation and Th17 immune responses. We previously reported that ethanolamine-type lysoplasmalogen (P-LPE), preferentially produced by group IIF secreted PLA2 (sPLA2-IIF/PLA2G2F) that is expressed in the suprabasal epidermis, promotes epidermal hyperplasia in psoriatic inflammation. Herein, we show that forcible degradation of epidermal P-LPE by topical application of recombinant lysophospholipase D (LyPls-PLD) from Thermocrispum, a lysoplasmalogen-specific hydrolase, attenuated epidermal hyperplasia and inflammation in imiquimod-induced and K5.Stat3C-transgenic mouse psoriasis models. In humans, P-LPE levels were elevated in the tape-stripped stratum corneum of patients with psoriasis. Moreover, in primary cultured human epidermal keratinocytes, aberrant cell proliferation and activation by psoriatic cytokines were sPLA2-IIF/P-LPE-dependent and were suppressed by the addition of LyPls-PLD with a decrease in P-LPE. These findings confirm that the sPLA2-IIF/P-LPE axis in the epidermis indeed regulates psoriasis, that P-LPE is a lipid biomarker that predicts the severity of psoriasis, and that pharmacological removal of this bioactive lipid is useful to prevent the disease. Thus, our study may lead to the development of drug discovery and diagnostic techniques based on this pathway.

Shoshin beriberi in a young man with gambling addiction.

We report a case of a 24-year-old previously healthy Japanese man who presented to the emergency department due to cardiopulmonary arrest lasting for 4 min. He had complained of chest pain and worsening dyspnea but was well until 3 days before admission. He had no history of alcohol consumption. Marked lactic acidosis, high-output heart failure, and hypotension with widened pulse pressure led to a diagnosis of shoshin beriberi. The patient recovered successfully without any residual symptoms after appropriate thiamine therapy. Because of the complexity of the clinical presentation and the lack of rapid diagnostic tests, thiamine deficiency remains difficult to diagnose. In this patient, we suspected that shoshin beriberi was caused by long-term poor nutritional status secondary to a severe gambling addiction to Japanese pinball games, known as 'pachinko'. Alcoholism, long-term intravenous alimentation, and diuretic use are well-known causes. We should not miss the opportunity for early intervention, even in young non-alcoholic patients such as this case. If left untreated, patients may die from cardiopulmonary collapse within hours of symptom onset. Thiamine should be administered as soon as suspicion for thiamine deficiency arises, such as in conditions of widened pulse pressure in a young patient. Learning objective: Alcoholism, long-term intravenous alimentation, and diuretic use are well-known causes of thiamine deficiency. However the complexity of the clinical presentation and the lack of rapid diagnostic tests make its diagnosis difficult. Shoshin beriberi is a fulminant form of this disease. We should not miss opportunities for early intervention. Thiamine should be administered as soon as its deficiency is suspected, such as in conditions of widened pulse pressure especially in a young patient.

Multiple diagnostic examinations are effective for the early diagnosis of scrofuloderma.

Although scrofuloderma is the most common subtype of cutaneous tuberculosis, its diagnosis is often delayed. In this case, ciprofloxacin was first administered as only Pseudomonas aeruginosa was detected by initial culture tests. Mycobacterium tuberculosis is usually susceptible to quinolone antibiotics, hence the partial improvement in inflammatory symptoms and subsequent delay in diagnosis. Our case serves as a reminder that we should always be aware of the possibility of cutaneous tuberculosis being the cause of an abscess, especially when the abscess is not completely resolved by antibiotics. Moreover, our case reminds us that it is necessary to conduct repeated culture tests, rather than relying purely on polymerase chain reaction (PCR) results, given that cases of PCR-negative acid-fast bacilli (AFB) culture-positive scrofuloderma have been reported. Fine needle aspiration is a less invasive and useful way to collect culture samples.

Multiple diagnostic examinations are effective for the early diagnosis of scrofuloderma.

Although scrofuloderma is the most common subtype of cutaneous tuberculosis, its diagnosis is often delayed. In this case, ciprofloxacin was first administered as only Pseudomonas aeruginosa was detected by initial culture tests. Mycobacterium tuberculosis is usually susceptible to quinolone antibiotics, hence the partial improvement in inflammatory symptoms and subsequent delay in diagnosis. Our case serves as a reminder that we should always be aware of the possibility of cutaneous tuberculosis being the cause of an abscess, especially when the abscess is not completely resolved by antibiotics. Moreover, our case reminds us that it is necessary to conduct repeated culture tests, rather than relying purely on polymerase chain reaction (PCR) results, given that cases of PCR-negative acid-fast bacilli (AFB) culture-positive scrofuloderma have been reported. Fine needle aspiration is a less invasive and useful way to collect culture samples.

Lysinibacillus fusiformis bacteremia: Case report and literature review.

A 93-year-old woman was diagnosed with Lysinibacillus fusiformis bacteremia complicated with coma blisters. Initial gram staining for L. fusiformis indicated the presence of gram-negative rods; however, subsequent staining of colonies from Mueller-Hinton agar revealed the presence of gram-positive and gram-negative rods with spherical endospores, and Matrix-Assisted Laser Desorption/Ionization Time-of-Flight Mass Spectrometry (VITEK ® MS and microflex® LT/SH) definitively identified the organism as L. fusiformis. The two-week administration of piperacillin/tazobactam and ampicillin resulted in an improvement of the patient's general condition, and the skin lesions gradually improved.