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BACKGROUND: Norwegian scabies (NS) is a serious parasitic skin condition. Although NS is one of the causes of erythroderma, it is frequently overlooked. Therefore, it is essential to raise awareness regarding NS presenting as erythroderma. CASE SUMMARY: We present a case of NS that persisted for more than 3 years. After following nonstandard treatment, the patient's rash worsened and gradually progressed into erythroderma. Finally, NS was diagnosed by skin microscopy and pathology. CONCLUSION: When patients with pruritic dermatosis have high-risk factors such as prolonged bed rest and immunodeficiency, clinicians need to enhance their awareness of NS and ensure prompt diagnosis and treatment.
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Background: Atopic dermatitis (AD), psoriasis, and drug reactions associated with erythroderma are frequently complicated by infections. However, bloodstream infection (BSI) have received less research attention. Objectives: This study aimed to investigate the clinical characteristics and risk factors associated with BSI in patients with erythroderma. Methods: A retrospective analysis was conducted on 141 erythroderma cases. Eleven cases were identified as having BSI. Clinical records of both BSI and non-BSI groups were reviewed and compared. Results: BSI was diagnosed in 7.80% (11/141) of erythroderma cases, with a breakdown of 7.14% in AD, 2.00% in psoriasis, and 17.14% in drug reactions. Notably, all positive skin cultures (7/7) showed bacterial isolates concordant with blood cultures. Univariate logistic regression analysis revealed several significant associations with BSI, including temperature (≤36.0 or ≥38.5 °C; odds ratio (OR) = 28.06; p < 0.001), chilling (OR = 22.10; p < 0.001), kidney disease (OR = 14.64; p < 0.001), etiology of drug reactions (OR = 4.18; p = 0.03), albumin (ALB) (OR = 0.86; p < 0.01), C-reaction protein (CRP) (OR = 1.01; p = 0.02), interleukin 6 (IL-6) (OR = 1.02; p = 0.02), and procalcitonin (PCT) (OR = 1.07; p = 0.03). Receiver operating characteristic (ROC) curves demonstrated significant associations with ALB (p < 0.001; the area under curve (AUC) = 0.80), PCT (p = 0.009; AUC = 0.74), and CRP (p = 0.02; AUC = 0.71). Conclusions: Increased awareness of BSI risk is essential in erythroderma management. Patients with specific risk factors, such as abnormal body temperature (≤36.0 or ≥38.5 °C), chilling sensations, kidney disease, a history of drug reactions, elevated CRP (≥32 mg/L), elevated PCT (≥1.00 ng/ml), and low albumin (≤31.0 g/L), require close monitoring for BSI development.
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Dermatitis Atópica , Dermatitis Exfoliativa , Psoriasis , Humanos , Estudios Retrospectivos , Masculino , Dermatitis Atópica/sangre , Dermatitis Atópica/epidemiología , Femenino , Factores de Riesgo , Persona de Mediana Edad , Adulto , Anciano , Bacteriemia/epidemiología , Bacteriemia/sangre , Adulto JovenRESUMEN
Erythroderma, also known as exfoliative dermatitis, is a rarely reported atypical cutaneous manifestation of adult-onset Still's disease (AOSD). We present the case of erythroderma in association with AOSD that was steroid dependent and responded to tocilizumab therapy. Skin rash, pruritis, and related laboratory findings were significantly improved upon the addition of tocilizumab, while prednisolone was successfully tapered to an ever-lowest maintenance level. To our knowledge, this is the first to report the sole therapeutic effect of tocilizumab in erythroderma related to AOSD.
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BACKGROUND: Ichthyosis is a common keratotic skin disease with high clinical, etiological and genetic heterogeneity. There are four types of non-syndromic hereditary ichthyoses, among which autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of recessive Mendelian disorders. ARCI present with different phenotypes and ABCA12 pathogenic variants have been shown to cause complex ARCI phenotypes, including harlequin ichthyosis (HI), lamellar ichthyosis (LI) and congenital ichthyosiform erythroderma (CIE). METHODS: A sporadic male patient, clinically diagnosed with CIE, was enrolled in this study. Exome sequencing was combined with Sanger sequencing to confirm the diagnosis and identify the pathogenic variants. In silico predictions were made using multiple software programs, and the identified variants were interpreted using the ACMG guidelines. A review of all literature reported ABCA12 variants was performed to explore genotype-phenotype correlations. RESULTS: Compound heterozygous ABCA12 variants [c.5381+1G>A and c.5485G>C (p.Asp1829His)] (NM_173076) were identified. The two variants were not detected in the public database. c.5381+1G>A is predicted to affect ABCA12 mRNA splicing and Asp1829 is highly conserved among various species. In silico analysis suggested that these two variants were responsible for the phenotype of the patient. Genotype-phenotype correlation analysis showed that biallelic truncation variants and/or exon/amino acid deletions in ABCA12 are the most common causes of HI. Biallelic missense variants are most common in LI and CIE. CONCLUSIONS: The compound heterozygous ABCA12 variants caused the CIE phenotype observed in the patient. The spectrum of ABCA12 pathogenic variants were broaden. Genotype-phenotype correlation analysis provided detailed evidence which can be used in future prenatal diagnosis and can inform the need for genetic counselling for patients with ABCA12-related ARCIs.
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Transportadoras de Casetes de Unión a ATP , Heterocigoto , Eritrodermia Ictiosiforme Congénita , Fenotipo , Humanos , Masculino , Transportadoras de Casetes de Unión a ATP/genética , Pueblos del Este de Asia , Estudios de Asociación Genética , Eritrodermia Ictiosiforme Congénita/genética , Eritrodermia Ictiosiforme Congénita/patología , Mutación , Mutación MissenseRESUMEN
Advanced clinical practitioners (ACPs) encounter patients with acute dermatological presentations ranging from minor to life-threatening conditions in both primary and secondary care settings. However, ACPs often feel unprepared to assess and treat patients with dermatological emergencies. This article aims to provide guidance to trainee and qualified ACPs, whether in acute hospital settings or primary care, in understanding the essential aspects to consider when consulting with patients presenting with acute dermatological emergencies. It also emphasises appropriate referrals to relevant specialties for necessary inpatient or outpatient investigations and ensure prompt treatment.
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Urgencias Médicas , Enfermedades de la Piel , Humanos , Enfermedades de la Piel/terapia , Enfermedad Aguda , Derivación y Consulta , EmpoderamientoRESUMEN
Key Clinical Message: High-dose intravenous immunoglobulin exhibits great potential in the treatment of Netherton syndrome. Abstract: Netherton syndrome (NS) is a rare autosomal recessive genodermatosis (OMIM #256500) characterized by superficial scaling, atopic manifestations, and multisystemic complications. It is caused by loss-of-function mutations in the SPINK5 gene, which encode a key kallikrein protease inhibitor. There are two subtypes of the syndrome that differ in clinical presentation and immune profile: ichthyosiform erythroderma and ichthyosis linearis circumflexa. NS is a multisystemic disease with numerous extracutaneous manifestations. Current therapy for patients with NS is mainly supportive, as there is no curative or specific treatment, especially for children with NS, but targeted therapies are being developed. We describe an 8-year-old boy with genetically proven NS treated with intravenous immunoglobulin for recurrent skin and systemic infections from infancy, growth retardation, and associated erythroderma. Under this therapy, his skin status, infectious exacerbations, and quality of life all improved. Knowledge of the cytokine-mediated pathogenesis of NS and the development of new biologic drugs open new possibilities for NS patients. However, the different therapeutic options have been applied in a limited number of cases, and variable responses have been shown. Randomized controlled trials with a sufficient number of patients stratified and treated according to their specific immune profile and clinical phenotype are needed to evaluate the safety and efficacy of treatment options for patients with NS.
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Netherton syndrome (NTS) is a genetic disorder that predominantly affects the hair and the skin, and it can have a wide variety of presentations. The genetic syndrome is more common with consanguineous parents. Given the rarity and varying presentation of the condition, a few cases have been reported in the literature. We present an unusual case of two incidental diagnoses of NTS in siblings of consanguineous parents, manifesting as erythroderma and other symptoms that were initially diagnosed as pityriasis rubra pilaris and psoriasis in separate visits. Physicians must maintain a high index of suspicion when faced with chronic skin conditions and hair shaft abnormalities that may have been present since childhood to avoid the sequela of inadvertent prolonged or misdiagnosis.
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Autosomal recessive congenital ichthyoses (ARCI) is a genetically heterogeneous condition that can be caused by pathogenic variants in at least 12 genes, including ABCA12. ARCI mainly consists of congenital ichthyosiform erythroderma (CIE), lamellar ichthyosis (LI) and harlequin ichthyosis (HI). The objective was to determine previously unreported pathogenic variants in ABCA12 and to update genotype-phenotype correlations for patients with pathogenic ABCA12 variants. Pathogenic variants in ABCA12 were detected using Sanger sequencing or a combination of Sanger sequencing and whole-exome sequencing. To verify the pathogenicity of a previously unreported large deletion and intron variant, cDNA analysis was performed using total RNA extracted from hair roots. Genetic analyses were performed on the patients with CIE, LI, HI and non-congenital ichthyosis with unusual phenotypes (NIUP), and 11 previously unreported ABCA12 variants were identified. Sequencing of cDNA confirmed the aberrant splicing of the variant ABCA12 in the patients with the previously unreported large deletion and intron variant. Our findings expand the phenotype spectrum of ichthyosis patients with ABCA12 pathogenic variants. The present missense variants in ABCA12 are considered to be heterogenous in pathogenicity, and they lead to varying disease severities in patients with ARCI and non-congenital ichthyosis with unusual phenotypes (NIUP).
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Eritrodermia Ictiosiforme Congénita , Ictiosis Lamelar , Ictiosis , Humanos , Ictiosis Lamelar/genética , Ictiosis Lamelar/patología , ADN Complementario , Genes Recesivos , Mutación , Ictiosis/genética , Eritrodermia Ictiosiforme Congénita/genética , Estudios de Asociación Genética , Transportadoras de Casetes de Unión a ATP/genéticaAsunto(s)
Autoanticuerpos , Dermatitis Exfoliativa , Dermatomiositis , Factores de Transcripción , Humanos , Dermatomiositis/inmunología , Dermatomiositis/complicaciones , Dermatomiositis/sangre , Dermatomiositis/diagnóstico , Dermatitis Exfoliativa/inmunología , Dermatitis Exfoliativa/etiología , Dermatitis Exfoliativa/diagnóstico , Autoanticuerpos/sangre , Autoanticuerpos/inmunología , Factores de Transcripción/inmunología , Femenino , Masculino , Persona de Mediana EdadRESUMEN
BACKGROUND: Autosomal recessive congenital ichthyoses (ARCIs) are a clinically heterogeneous group of keratinization disorders characterized by generalized skin scaling due to mutations in at least 12 genes. The aim of our study was to assess disease severity, phenotypic, and ultrastructural features and to evaluate their association with genetic findings in ARCI patients. METHODS: Clinical signs and symptoms, and disease severity were scored in a single-center series of patients with a genetic diagnosis of ARCI. Skin ultrastructural findings were reviewed. RESULTS: Seventy-four consecutive patients (mean age 11.0 years, range 0.1-48.8) affected with lamellar ichthyosis (50/74, 67.5%), congenital ichthyosiform erythroderma (18/74, 24.3%), harlequin ichthyosis (two/74, 2.7%), and other minor ARCI subtypes (four/74, 5.4%) were enrolled. Mutated genes were as follows: TGM1 in 18/74 (24.3%) patients, ALOX12B in 18/74 (24.3%), CYP4F22 in 12/74 (16.2%), ABCA12 in nine/74 (12.2%), ALOXE3 in seven/74 (9.5%), NIPAL4 in seven/74 (9.5%), and CERS3, PNPLA1, and SDR9C7 in 1 patient each (1.4%). Twenty-five previously undescribed mutations in the different ARCI causative genes, as well as two microduplications in TGM1, and two microdeletions in CYP4F22 and NIPAL4 were identified. The mean ichthyosis severity score in TGM1- and ABCA12-mutated patients was significantly higher than in all other mutated genes, while the lowest score was observed in CYP4F22-mutated patients. Alopecia, ectropion, and eclabium were significantly associated with TGM1 and ABCA12 mutations, and large, thick, and brownish scales with TGM1 mutations. Among specific phenotypic features, psoriasis-like lesions as well as a trunk reticulate scale pattern and striated keratoderma were present in NIPAL4-mutated patients. Ultrastructural data available for 56 patients showed a 100% specificity of cholesterol clefts for TGM1-mutated cases and revealed abnormal lamellar bodies in SDR9C7 and CERS3 patients. CONCLUSION: Our study expands the phenotypic and genetic characterization of ARCI by the description of statistically significant associations between disease severity, specific clinical signs, and different mutated genes. Finally, we highlighted the presence of psoriasis-like lesions in NIPAL4-ARCI patients as a novel phenotypic feature with diagnostic and possible therapeutic implications.
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Eritrodermia Ictiosiforme Congénita , Ictiosis Lamelar , Lipasa , Mutación , Fenotipo , Índice de Severidad de la Enfermedad , Transglutaminasas , Humanos , Niño , Preescolar , Masculino , Femenino , Adolescente , Adulto , Adulto Joven , Lactante , Persona de Mediana Edad , Eritrodermia Ictiosiforme Congénita/genética , Eritrodermia Ictiosiforme Congénita/patología , Italia , Estudios Transversales , Ictiosis Lamelar/genética , Ictiosis Lamelar/patología , Transglutaminasas/genética , Lipasa/genética , Proteínas de la Membrana/genética , Transportadoras de Casetes de Unión a ATP/genética , Genotipo , Araquidonato 12-Lipooxigenasa/genética , Piel/patología , Piel/ultraestructura , Ictiosis/genética , Ictiosis/patología , Fosfolipasas , Receptores de Superficie Celular , Aciltransferasas , Esfingosina N-Aciltransferasa , Sistema Enzimático del Citocromo P-450 , Oxidorreductasas , LipooxigenasaRESUMEN
INTRODUCTION: PRP is a rare entity of unknown etiopathogenesis. Lack of management guidelines makes it a challenge for clinicians. OBJECTIVE: To add our experience to increase evidence about PRP. METHODS: We performed a retrospective, descriptive and multicentric study of 65 patients with PRP, being the largest European case series of patients with PRP. RESULTS: PRP was more frequent in male patients with an average age of 51 years, but erythrodermic forms presented in older patients (average age 61 years). Six (75%) paediatric patients and ten (60%) non-erythrodermic adults controlled their disease with topical corticosteroids. On the contrary, 26 (68%) erythrodermic patients required biologic therapy as last and effective therapy line requiring an average of 6.5 months to achieve complete response. CONCLUSION: Our study showed a statistical difference in terms of outcome and response to treatment between children or patients with limited disease and patients who develop erythroderma.
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Pitiriasis Rubra Pilaris , Humanos , Masculino , Pitiriasis Rubra Pilaris/patología , Pitiriasis Rubra Pilaris/tratamiento farmacológico , Estudios Retrospectivos , Femenino , Persona de Mediana Edad , España/epidemiología , Anciano , Adulto , Niño , Adolescente , Preescolar , Adulto Joven , Anciano de 80 o más Años , Dermatitis Exfoliativa/etiología , Dermatitis Exfoliativa/patología , Resultado del Tratamiento , Corticoesteroides/uso terapéutico , LactanteRESUMEN
Erythroderma is a condition characterized by erythema affecting at least 90% of the skin surface area. It can be caused by various underlying conditions. Due to nonspecific clinical and laboratory findings, determining the cause may pose a challenge. In the retrospective study, we identified 212 patients hospitalized for erythroderma in the Department of Dermatology, Venereology, and Allergology at Wroclaw Medical University between January 2012 and March 2022. Clinical, laboratory, and histopathological features, as well as the management of patients, were studied. The median age of adults was 61 years (IQR = 47-68). The most common causes of erythroderma were psoriasis (n = 49, 24.01%), followed by atopic dermatitis (AD) (n = 27, 13.23%), and cutaneous T-cell lymphomas (CTCL) (n = 27, 13.23%). Despite laboratory tests and histopathological examination, the etiology of erythroderma remained undetermined in 39 cases (19.12%). In 70.59% of patients, it was the first episode of erythroderma, while 29.41% experienced a recurrent episode. Regardless of the etiology of erythroderma, patients were most frequently treated with systemic antihistamines (146 cases, 71.57%) and systemic steroids (132 cases, 64.71%). Patients with idiopathic erythroderma constitute the greatest diagnostic and therapeutic challenge, requiring particularly thorough evaluation.
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Human immunodeficiency virus (HIV)-associated CD8+ T-cell skin infiltrative disease with severe erythroderma has rarely been reported. While HIV-positive patients are prone to develop lymphoma, which is often associated with Epstein-Barr virus, polymorphic lymphoproliferative disorder is rare, accounting for <5% of cases. We herein report a 41-year-old HIV-positive man who presented with a fever, erythroderma, and lymphadenopathy and was diagnosed with the coexistence of both diseases. His condition improved significantly with continued antiretroviral therapy. This case suggests that HIV-induced immunodeficiency is central to the pathogenesis of both entities and that improvement of the immunodeficient state is an effective treatment.
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Linfocitos T CD8-positivos , Infecciones por Virus de Epstein-Barr , Trastornos Linfoproliferativos , Humanos , Masculino , Adulto , Linfocitos T CD8-positivos/inmunología , Infecciones por Virus de Epstein-Barr/complicaciones , Infecciones por Virus de Epstein-Barr/inmunología , Infecciones por Virus de Epstein-Barr/tratamiento farmacológico , Trastornos Linfoproliferativos/tratamiento farmacológico , Trastornos Linfoproliferativos/inmunología , Trastornos Linfoproliferativos/diagnóstico , Síndrome de Inmunodeficiencia Adquirida/tratamiento farmacológico , Síndrome de Inmunodeficiencia Adquirida/complicaciones , Síndrome de Inmunodeficiencia Adquirida/inmunología , Herpesvirus Humano 4/inmunología , Infecciones por VIH/tratamiento farmacológico , Infecciones por VIH/complicaciones , Infecciones por VIH/inmunología , Resultado del Tratamiento , Terapia Antirretroviral Altamente Activa , Linfocitos B/inmunologíaRESUMEN
Recombination activating genes (RAG)1 and RAG2 deficiency leads to combined T/B-cell deficiency with varying clinical presentations. This study aimed to define the clinical/laboratory spectrum of RAG1 and RAG2 deficiency. We retrospectively reviewed the clinical/laboratory data of 35 patients, grouped them as severe combined immunodeficiency (SCID), Omenn syndrome (OS), and delayed-onset combined immunodeficiency (CID) and reported nine novel mutations. The male/female ratio was 23/12. Median age of clinical manifestations was 1 months (mo) (0.5-2), 2 mo (1.25-5), and 14 mo (3.63-27), age at diagnosis was 4 mo (3-6), 4.5 mo (2.5-9.75), and 27 mo (14.5-70) in SCID (n = 25; 71.4%), OS (n = 5; 14.3%), and CID (n = 5; 14.3%) patients, respectively. Common clinical manifestations were recurrent sinopulmonary infections 82.9%, oral moniliasis 62.9%, diarrhea 51.4%, and eczema/dermatitis 42.9%. Autoimmune features were present in 31.4% of the patients; 80% were in CID patients. Lymphopenia was present in 92% of SCID, 80% of OS, and 80% of CID patients. All SCID and CID patients had low T (CD3, CD4, and CD8), low B, and increased NK cell numbers. Twenty-eight patients underwent hematopoietic stem cell transplantation (HSCT), whereas seven patients died before HSCT. Median age at HSCT was 7 mo (4-13.5). Survival differed in groups; maximum in SCID patients who had an HLA-matched family donor, minimum in OS. Totally 19 (54.3%) patients survived. Early molecular genetic studies will give both individualized therapy options, and a survival advantage because of timely diagnosis and treatment. Further improvement in therapeutic outcomes will be possible if clinicians gain time for HSCT.
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Linfopenia , Enfermedades de Inmunodeficiencia Primaria , Inmunodeficiencia Combinada Grave , Humanos , Masculino , Femenino , Lactante , Proteínas de Homeodominio/genética , Estudios Retrospectivos , Inmunodeficiencia Combinada Grave/genética , Mutación , Proteínas de Unión al ADN/genética , Proteínas Nucleares/genéticaRESUMEN
Background: It is difficult to diagnose the underlying cause of erythroderma on mere clinical presentation. The role of dermoscopy in diagnosing erythroderma secondary to various etiologies is evolving. Aim and Objectives: This study aimed to observe the dermoscopic features of erythroderma secondary to different cutaneous disorders and compare them with clinical features and histopathology. Materials and Methods: Twenty-nine consecutive patients of erythroderma were enrolled in the study. Dermoscopy was performed on every case using a Heine Delta II Dermatoscope with 10x magnification in polarized mode. A histopathological examination was conducted to confirm the diagnosis. Results: Eight patients were diagnosed with psoriasis, five with endogenous eczema, four with pityriasis rubra pilaris (PRP), three with pustular psoriasis, two with drug rash secondary to antitubercular therapy, two with dermatophytic infection, one patient each of atopic dermatitis, crusted scabies, pemphigus foliaceous, drug reaction with eosinophilia and systemic symptoms, and mycosis fungoides. Characteristic dermoscopic features were observed in erythroderma due to psoriasis, PRP, pustular psoriasis, endogenous eczema, scabies, and dermatophytosis. Differentiation of other disorders based on dermoscopy alone was difficult, and clinico-histopathological correlation was crucial to reach a diagnosis. Conclusion: Dermoscopic features of classical patterns of skin disorders are preserved even in the corresponding erythrodermic or unstable stage. Dermoscopic features of erythroderma secondary to psoriasis, pustular psoriasis, PRP, endogenous eczema, scabies, and dermatophytosis are clearly differentiating, whereas the dermoscopic features in other causes of erythroderma are overlapping. Thus, dermoscopy can be a good screening tool in the clinical assessment of erythroderma.
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Background: Erythrodermic psoriasis is an acute inflammatory condition presenting as erythema and scaling involving more than 90% of body surface area in patients with a history of psoriasis vulgaris. If not treated promptly, metabolic complications and infections due to acute skin failure can cause significant morbidity and mortality in this condition. Interleukin-17 (IL-17) is considered to be the key player in initiating the inflammatory cascade in psoriasis. IL-17 blockers have been successfully used in the management of psoriasis vulgaris. However, its use in unstable erythrodermic psoriasis is limited to isolated case reports. Methods: We hereby report an observational study of nine patients of unstable psoriatic erythroderma successfully managed with injection secukinumab and followed up over the next 24 months. Results: Nine patients were managed during the study period, and a successful outcome was noted in all the patients. The Psoriasis Area and Severity Index response rate improved by at least 75% from baseline in 33.3% (3/9) at week 4 and improved to 88.9% (8/9) at week 12. None of the patients had a recurrence of erythroderma till 24 months of followup. Conclusion: The study concluded that secukinumab is quick, safe, and efficient in psoriatic erythroderma, and there was no relapse of erythroderma in any of the patients in the 24 months of followup.
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BACKGROUND: Dermatophytes are the most common causative pathogens of mycoses worldwide and usually cause superficial infections. However, they can enter deep into the dermis lead to invasive dermatophytosis such as deeper dermal dermatophytosis on rare occasions. Erythroderma is a severe dermatological manifestation of various diseases resulting in generalized skin redness, but erythroderma due to fungi infections is barely reported. In this article, we reported the first case of erythroderma combined with deeper dermal dermatophytosis due to Trichophyton rubrum (T. rubrum) in a patient with myasthenia gravis. CASE PRESENTATION: A 48-year-old man was hospitalized because of erythema with scaling and nodules covering his body for a month. The patient had a history of myasthenia gravis controlled by regularly taking prednisolone for > 10 years and accompanied by onychomycosis and tinea pedis lasting > 8 years. Based on histopathological examinations, fungal cultures, and DNA sequencing results, the patient was finally diagnosed with dermatophyte-induced erythroderma combined with deeper dermal dermatophytosis caused by T. rubrum. After 2 weeks of antifungal treatment, the patient had recovered well. CONCLUSIONS: This case report shows that immunosuppressed patients with long histories of superficial mycoses tend to have a higher risk of developing invasive dermatophytic infections or disseminated fungal infections. Dermatologists should be alert to this condition and promptly treat the superficial dermatophytosis.
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Arthrodermataceae , Dermatitis Exfoliativa , Miastenia Gravis , Tiña , Masculino , Humanos , Persona de Mediana Edad , Tiña/complicaciones , Tiña/diagnóstico , Tiña/tratamiento farmacológico , Dermatitis Exfoliativa/complicaciones , Trichophyton/genéticaRESUMEN
Ichthyoses are genetically determined cornification disorders of the epidermis characterized by the presence of different degrees of scaling, hyperkeratosis, and erythroderma often associated with palmoplantar keratoderma. Different classifications of these diseases have been proposed, often based upon the involved genes and/or the clinical presentation. The clinical features of these diseases present some overlap of phenotypes among distinct genetic entities, depending mainly on the penetrance of mutations. In this study, using a clinical, genetic, and molecular approach, we analyzed a family with two affected members who had clinical and histological features resembling erythrokeratodermia variabilis (EKV) or a type of erythrodermic hyperkeratosis with palmoplantar keratoderma. Despite of the clinical presentation, we demonstrated that the affected patients were genetically double heterozygous for two different mutations in the ABCA12 gene, known to be responsible for harlequin ichthyosis. To explain the mild phenotype of our patients, we performed a molecular characterization of the skin. In the upper layers of the epidermis, the results showed a patchy presence of the glucosyl-ceramides (GlcCer), which is the lipid transported by ABCA12, fundamental in contributing to skin impermeability. Indeed, the two mutations detected do not completely abolish ABCA12 activity, indicating that the mild phenotype is due to a partial loss of function of the enzyme, thus giving rise to an intermediate phenotype resembling EKVP, due to a partial depletion of GlcCer deposition.