RESUMO
There are limited data on acrodermatitis continua of Hallopeau (ACH), particularly among Asian populations. The primary aim was to evaluate the clinical features of ACH and treatment approaches in a sizeable multicentre Asian cohort. We analysed data from adult patients diagnosed with ACH. Of 65 patients with ACH, seven patients had ACH with GPP. Females were more frequently affected in both conditions. Five (71.4%) developed GPP 5-33 years after ACH onset, while two (28.6%) developed GPP concurrently with ACH. The onset age for ACH with GPP (27.9 ± 13.6 years) was earlier than that of isolated ACH (39.8 ± 17.3 years). Metabolic comorbidities were common. ACH exhibited a chronic persistent course. Among systemic non-biologics, acitretin was the most frequently prescribed, followed by ciclosporin and methotrexate. Acitretin and ciclosporin demonstrated similar marked response rates, which surpassed that of methotrexate. Regarding biologics, a marked response was more commonly observed with interleukin-17 inhibitors than with tumour necrosis factor inhibitors. Females are predominant in both conditions. The onset age for ACH among Asian patients is earlier (late 30s) than that for Caucasian patients (late 40s). Interleukin-17 inhibitors may be more effective than tumour necrosis factor inhibitors in managing ACH.
Assuntos
Acrodermatite , Produtos Biológicos , Psoríase , Adulto , Feminino , Humanos , Adolescente , Adulto Jovem , Acitretina/uso terapêutico , Inibidores do Fator de Necrose Tumoral/uso terapêutico , Interleucina-17 , Metotrexato/uso terapêutico , Ciclosporina/uso terapêutico , Acrodermatite/tratamento farmacológico , Acrodermatite/diagnóstico , Acrodermatite/patologia , Estudos Retrospectivos , Psoríase/tratamento farmacológico , Produtos Biológicos/uso terapêuticoRESUMO
Pustular psoriasis is characterised by eruptions of neutrophilic sterile pustules. The European Rare and Severe Psoriasis Expert Network consensus defines pustular psoriasis into three subtypes; generalised pustular psoriasis (GPP), palmoplantar pustulosis and acrodermatitis continua of Hallopeau (ACH). Mixed forms are categorised according to their predominant features. However, the Japanese Dermatological Association includes ACH under the diagnosis of GPP. This article aims to review the similarities and differences between ACH and GPP. Based on our review, interleukin (IL)-36RN mutations, the most frequent genetic findings in pustular psoriasis are found most commonly in GPP, followed by ACH. Genotypes of IL-36RN mutations among GPP patients and ACH patients are different between European and Asian ethnicities. IL-36 signalling pathway is the main mechanism. Metabolic diseases are common comorbidities and joint involvement can occur in 20.5%-36.4% of both conditions. Associated plaque psoriasis is more common in GPP than in ACH. Generally, ACH, even the generalised type, does not have systemic inflammation whereas GPP can occur with or without systemic inflammation. ACH can occur before, simultaneously, or after the development of GPP. However, response to treatment for GPP and ACH even in the same patients appear to be different. ACH seemed to be more recalcitrant to treatment than GPP but severe flare of GPP can lead to morbidity and mortality. Although GPP and ACH share genotypes and pathogenesis, we believe that ACH should be classified separately from GPP, and not under diagnosis of GPP. Future research is warranted to satisfactorily distinguish the two conditions.
Assuntos
Acrodermatite , Psoríase , Dermatopatias Vesiculobolhosas , Humanos , Acrodermatite/diagnóstico , Acrodermatite/genética , Acrodermatite/patologia , Psoríase/patologia , Interleucinas/genética , InflamaçãoRESUMO
Enterokinase deficiency (EKD) is a rare autosomal recessive inherited disorder caused by loss-of-function mutations of the transmembrane protease serine 15 (TMPRSS15) gene. To date, only 12 cases of EKD have been described in the literature and skin involvement has seldom been described. We identified a novel homozygous nonsense mutation in the TMPRSS15 gene (c.1216C>T, p.R406*) in a female infant, who manifested with acrodermatitis enteropathica (AE)-like lesions that were dramatically relieved within 11 days after initiation of a protein-rich hydrolyzed formula. Our case shows that AE-like rashes can be a manifestation of EKD and expands the spectrum of causative mutations in the TMPRSS15 gene.
Assuntos
Acrodermatite , Peptídeo Hidrolases , Lactente , Humanos , Feminino , Peptídeo Hidrolases/genética , Serina/genética , Acrodermatite/diagnóstico , Acrodermatite/genética , Acrodermatite/patologia , MutaçãoRESUMO
ZIP4 is a representative member of the Zrt-/Irt-like protein (ZIP) transporter family and responsible for zinc uptake from diet. Loss-of-function mutations of human ZIP4 (hZIP4) drastically reduce zinc absorption, causing a life-threatening autosomal recessive disorder, acrodermatitis enteropathica (AE). These mutations occur not only in the conserved transmembrane zinc transport machinery, but also in the extracellular domain (ECD) of hZIP4, which is only present in a fraction of mammalian ZIPs. How these AE-causing ECD mutations lead to ZIP4 malfunction has not be fully clarified. In this work, we characterized all seven confirmed AE-causing missense mutations in hZIP4-ECD and found that the variants exhibited completely abolished zinc transport activity in a cell-based transport assay. Although the variants were able to be expressed in HEK293T cells, they failed to traffic to the cell surface and were largely retained in the ER with immature glycosylation. When the corresponding mutations were introduced in the ECD of ZIP4 from Pteropus Alecto, a close homolog of hZIP4, the variants exhibited structural defects or reduced thermal stability, which likely accounts for intracellular mistrafficking of the AE-associated variants and as such a total loss of zinc uptake activity. This work provides a molecular pathogenic mechanism for AE.
Assuntos
Acrodermatite/genética , Proteínas de Transporte/genética , Proteínas de Transporte de Cátions/genética , Zinco/deficiência , Acrodermatite/patologia , Sequência de Aminoácidos/genética , Proteínas de Transporte de Cátions/ultraestrutura , Membrana Celular/genética , Membrana Celular/ultraestrutura , Células HEK293 , Humanos , Mutação com Perda de Função/genética , Zinco/metabolismoRESUMO
We report the case of a 75-year-old woman presenting with acrodermatitis chronica atrophicans affecting the right hand dorsum, developing after an insect bite sustained in Greece. Diagnosis was confirmed by serology, PCR and histopathological findings. The plaque resolved following a 3-week course of oral doxycycline. Click https://www.wileyhealthlearning.com/#/online-courses/4ebea04b-e4de-49d3-9bbb-0d3355007e92 for the corresponding questions to this CME article.
Assuntos
Acrodermatite , Doença de Lyme , Acrodermatite/patologia , Idoso , Doxiciclina , Feminino , Mãos/patologia , Humanos , Doença de Lyme/diagnóstico , Reação em Cadeia da PolimeraseRESUMO
BACKGROUND: Zinc is mainly absorbed in the duodenum and proximal jejunum, which are removed during pancreaticoduodenectomy (PD). Little is known about the adverse oral events and skin disorders caused by zinc deficiency after PD. Herein, we reviewed studies on the development of zinc deficiency after PD and reported about a patient with zinc deficiency after PD who required home intravenous zinc replacement. CASE PRESENTATION: A 73-year-old woman with glossitis, taste disorder, and acrodermatitis enteropathica-like eruption on her fingers presented to the Division of Dentistry and Oral Surgery 69 days after PD. Her serum zinc level markedly decreased to 30 µg/dL. Oral zinc administration was inadequate to treat hypozincemia after PD; therefore, multi-trace elements were injected intravenously during readmission. Her serum zinc levels recovered, and her lesions gradually improved. Furthermore, a central venous port was implanted to maintain normal serum zinc levels, and she continued self-injecting zinc at home. CONCLUSIONS: Zinc deficiency after PD rarely occurs. The clinical oncologist community, including dentists responsible for the oral care of cancer patients, should be aware of the oral adverse events, such as dysgeusia, glossitis, and oral pain, associated with zinc deficiency after cancer surgery and that induced by chemotherapy or head and neck radiation therapy.
Assuntos
Acrodermatite , Pancreaticoduodenectomia , Acrodermatite/tratamento farmacológico , Acrodermatite/etiologia , Acrodermatite/patologia , Idoso , Suplementos Nutricionais , Feminino , Humanos , Pancreaticoduodenectomia/efeitos adversos , ZincoRESUMO
Acroangiodermatitis (AAD)[KL1] is a rare vasoproliferative disorder often involving the extremities that has been classified into two variants. Mali-type AAD is more common and associated with chronic venous stasis. Stewart-Bluefarb syndrome[KL2], the other variant, is associated with underlying arteriovenous abnormalities. Mali-type AAD is a relatively benign diagnosis but it may mimic more harmful etiologies such as Kaposi sarcoma both clinically and histologically. A 67-year-old woman with a history of varicose veins, deep vein thrombosis, stroke, and obesity presented to our outpatient clinic with verrucous red-brown papules and plaques on her right lower extremity worsening for three years. Biopsy was consistent with a diagnosis of Mali-type AAD. Providers should be aware of AAD and its variants to accurately differentiate it from more harmful entities.
Assuntos
Acrodermatite , Malformações Arteriovenosas , Sarcoma de Kaposi , Acrodermatite/diagnóstico , Acrodermatite/etiologia , Acrodermatite/patologia , Idoso , Malformações Arteriovenosas/complicações , Malformações Arteriovenosas/diagnóstico , Malformações Arteriovenosas/patologia , Feminino , Humanos , Perna (Membro)/patologia , Doenças Raras/complicações , Sarcoma de Kaposi/diagnóstico , SíndromeRESUMO
A girl, aged 11 years, was admitted due to recurrent rash on the whole body and mucosa for 10 years, and typical rash was erythema at the perioral region, hand-foot joints, vulva, and perianal region, with blisters, erosions, and ulcers on the erythema. The girl was improved after zinc supplementation. Her younger brother had similar rash and medical history. The histopathological examination showed epidermal parakeratosis with mild hyperkeratosis, severe spongiform edema of the stratum corneum, significant proliferation of acanthocytes, and vacuolation of keratinocytes. The genetic testing revealed that both the girl and her younger brother had a homozygous mutation of c.1456(exon9)delG in the SLC39A4 gene, and thus the girl was diagnosed with acrodermatitis enteropathica. It is concluded that for children with recurrent rash on the limbs and at the perioral region, genetic testing should be performed as early as possible to make a confirmed diagnosis, and a sufficient dose of zinc supplementation should be given, while the levels of trace elements such as blood zinc should be regularly monitored.
Assuntos
Acrodermatite , Proteínas de Transporte de Cátions , Exantema , Oligoelementos , Acrodermatite/diagnóstico , Acrodermatite/genética , Acrodermatite/patologia , Proteínas de Transporte de Cátions/genética , Criança , Exantema/etiologia , Feminino , Homozigoto , Humanos , Masculino , Recidiva , ZincoRESUMO
BACKGROUND: Information on large groups of patients with acrodermatitis chronica atrophicans (ACA) is limited. METHODS: We assessed clinical and microbiological characteristics of patients with ACA diagnosed at a single medical centre and compared findings in periods 1991-2004 vs. 2005-2018. The cohort is representative of Slovenian ACA patients. RESULTS: We assessed 693 patients: 461 females and 232 males, with median age of 64 years. Median duration of ACA before diagnosis was 12 months. In all but 2 patients, the skin lesions were located on extremities, more often on the lower (70.0%) than the upper (45.2%), bilaterally in 42.4%. Reddish-blue discoloration, swelling, thinning and wrinkling of skin were present in 95.2%, 28.1%, 46.4% and 20.5% of patients, respectively. Overall, 64.4% of patients reported constitutional symptoms, 23.1% had local symptoms, and 20.8% had symptoms/signs of peripheral neuropathy. Nodules, arthritis, joint deformity, muscle atrophy and paresis were rare (<3%). Borreliae were isolated from 200/664 (30.1%) skin samples; 92.8% were Borrelia afzelii. B. garinii and B. burgdorferi s.s. were more often isolated from the skin of male patients (OR = 4.17) and from those with arthropathy (OR = 11.74). Patients included in the more recent period were older, complained less often of constitutional symptoms but more often of local symptoms, and more often had local swelling but less often skin atrophy and bilateral involvement, probably as a consequence of earlier diagnosis. CONCLUSIONS: ACA, typically caused by B. afzelii, usually affects older women. Clinical presentation depends on the duration of illness and probably on the Borrelia species causing the disease.
Assuntos
Acrodermatite/microbiologia , Acrodermatite/patologia , Grupo Borrelia Burgdorferi/isolamento & purificação , Doença de Lyme/diagnóstico , Adulto , Idoso , Atrofia , Estudos de Coortes , Feminino , Humanos , Doença de Lyme/complicações , Masculino , Pessoa de Meia-Idade , EslovêniaRESUMO
BACKGROUND: Coronavirus disease-19 (COVID-19) is an ongoing global pandemic caused by the "severe acute respiratory syndrome coronavirus 2" (SARS-CoV-2), which was isolated for the first time in Wuhan (China) in December 2019. Common symptoms include fever, cough, fatigue, dyspnea and hypogeusia/hyposmia. Among extrapulmonary signs associated with COVID-19, dermatological manifestations have been increasingly reported in the last few months. SUMMARY: The polymorphic nature of COVID-19-associated cutaneous manifestations led our group to propose a classification, which distinguishes the following six main clinical patterns: (i) urticarial rash, (ii) confluent erythematous/maculopapular/morbilliform rash, (iii) papulovesicular exanthem, (iv) chilblain-like acral pattern, (v) livedo reticularis/racemosa-like pattern, (vi) purpuric "vasculitic" pattern. This review summarizes the current knowledge on COVID-19-associated cutaneous manifestations, focusing on clinical features and therapeutic management of each category and attempting to give an overview of the hypothesized pathophysiological mechanisms of these conditions.
Assuntos
Acrodermatite/virologia , COVID-19/complicações , Exantema/virologia , Urticária/virologia , Acrodermatite/patologia , Exantema/patologia , Humanos , Livedo Reticular/patologia , Livedo Reticular/virologia , Gravidade do Paciente , Púrpura/patologia , Púrpura/virologia , SARS-CoV-2 , Urticária/patologiaRESUMO
The Zrt-/Irt-like protein (ZIP) family mediates zinc influx from extracellular space or intracellular vesicles/organelles, playing a central role in systemic and cellular zinc homeostasis. Out of the 14 family members encoded in human genome, ZIP4 is exclusively responsible for zinc uptake from dietary food and dysfunctional mutations of ZIP4 cause a life-threatening genetic disorder, Acrodermatitis Enteropathica (AE). About half of the missense AE-causing mutations occur within the large N-terminal extracellular domain (ECD), and our previous study has shown that ZIP4-ECD is crucial for optimal zinc uptake but the underlying mechanism has not been clarified. In this work, we examined zinc binding to the isolated ZIP4-ECD from Pteropus Alecto (black fruit bat) and located zinc-binding sites with a low micromolar affinity within a histidine-rich loop ubiquitously present in ZIP4 proteins. Zinc binding to this protease-susceptible loop induces a small and highly localized structural perturbation. Mutagenesis and functional study on human ZIP4 by using an improved cell-based zinc uptake assay indicated that the histidine residues within this loop are not involved in preselection of metal substrate but play a role in promoting zinc transport. The possible function of the histidine-rich loop as a metal chaperone facilitating zinc binding to the transport site and/or a zinc sensor allosterically regulating the transport machinery was discussed. This work helps to establish the structure/function relationship of ZIP4 and also sheds light on other metal transporters and metalloproteins with clustered histidine residues.
Assuntos
Acrodermatite/metabolismo , Proteínas de Transporte de Cátions/metabolismo , Mutação de Sentido Incorreto , Zinco/deficiência , Zinco/metabolismo , Acrodermatite/genética , Acrodermatite/patologia , Substituição de Aminoácidos , Transporte Biológico Ativo , Proteínas de Transporte de Cátions/química , Proteínas de Transporte de Cátions/genética , Células HEK293 , Humanos , Estrutura Secundária de Proteína , Relação Estrutura-Atividade , Zinco/químicaRESUMO
BACKGROUND: We present a distinctive type of acquired vascular proliferation, for which we propose the name of poikilodermatous plaque-like hemangioma. OBJECTIVE: The aim of this study was to summarize the clinical and histopathologic features in a case series of poikilodermatous plaque-like hemangioma. METHODS: Sixteen cases were identified from the routine clinical and referral practices of the authors. Clinical characteristics, including demographic details and clinical morphology, were collated. The salient histopathologic features, including immunohistochemical staining results, were summarized. RESULTS: The lesions were usually solitary erythematous-to-violaceous poikilodermatous plaques on the lower extremities and pelvic girdle, with an indolent clinical course. Mean age of affected patients was 72 (range 58-80) years, and there was a male predominance. Histology comprised a distinctive band-like proliferation of vascular channels suggestive of postcapillary venules within the superficial dermis with a background of fibrosis, edema, and loss of elastic fibers. Despite the clinical atrophic appearance, acanthosis was a frequent finding. LIMITATIONS: Retrospective study. CONCLUSION: Poikilodermatous plaque-like hemangioma is a distinctive and previously undescribed vascular proliferation defined by a constellation of consistent and reproducible clinical and histologic features.
Assuntos
Acrodermatite/patologia , Hemangioma/patologia , Ceratose/patologia , Neoplasias Cutâneas/patologia , Acrodermatite/diagnóstico , Idoso , Idoso de 80 Anos ou mais , Biópsia por Agulha , Tomada de Decisão Clínica , Estudos de Coortes , Diagnóstico Diferencial , Feminino , Hemangioma/diagnóstico , Humanos , Imuno-Histoquímica , Ceratose/diagnóstico , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Neoplasias Cutâneas/diagnósticoRESUMO
Acrodermatitis continua of Hallopeau (ACH) is a chronic, inflammatory, and relapsing disorder characterized by the progressive destruction of fingernails and toenails. This condition is rare, difficult to treat, and often misdiagnosed. Several antipsoriatic treatments have been used, without any therapeutic guideline and no real improvement. Apremilast is an oral phosphodiesterase 4 inhibitor, approved for the treatment of chronic plaque psoriasis and psoriatic arthritis. It increases the intracellular concentration of cAMP and restores cytokine equilibrium, especially IL-10, which is particularly involved in nail psoriasis. We reported the case of a 58-year-old man affected by ACH, successfully treated with Apremilast, who achieved a complete healing in just 1 month of treatment without any side effect. We suggest this drug as a successful new treatment for ACH, which can improve clinical manifestations rapidly and has no or few adverse effects. Future formal clinical trials and additional case reports are needed to establish the safety and efficacy of Apremilast in the treatment of ACH.
Assuntos
Acrodermatite/tratamento farmacológico , Doenças da Unha/tratamento farmacológico , Talidomida/análogos & derivados , Acrodermatite/patologia , Anti-Inflamatórios não Esteroides/efeitos adversos , Anti-Inflamatórios não Esteroides/uso terapêutico , Humanos , Masculino , Pessoa de Meia-Idade , Doenças da Unha/patologia , Talidomida/efeitos adversos , Talidomida/uso terapêutico , Resultado do TratamentoRESUMO
Well-known causes of zinc deficiency, also referred to as acrodermatitis enteropathica (AE), include defects in intestinal zinc transporters and inadequate intake, but a rare cause of acquired zinc deficiency discussed here is an iatrogenic nutritional deficiency caused by parenteral nutrition administered without trace elements. While zinc-depleted parenteral nutrition causing dermatosis of acquired zinc deficiency was first reported in the 1990s, it is now again relevant due to a national vitamin and trace element shortage. A high index of suspicion may be necessary to diagnose zinc deficiency, particularly because early clinical findings are nonspecific. We present this case of acquired zinc deficiency in a patient admitted to a pediatric intensive care unit for respiratory distress and atypical pneumonia, who subsequently developed a severe bullous eruption due to iatrogenic zinc deficiency but was treated effectively with enteral and parenteral zinc supplementation, allowing for rapid re-epithelialization of previously denuded skin.
Assuntos
Acrodermatite/diagnóstico , Desnutrição/diagnóstico , Nutrição Parenteral Total/efeitos adversos , Zinco/deficiência , Acrodermatite/tratamento farmacológico , Acrodermatite/etiologia , Acrodermatite/patologia , Biópsia por Agulha , Criança , Serviço Hospitalar de Emergência , Humanos , Doença Iatrogênica , Imuno-Histoquímica , Unidades de Terapia Intensiva , Masculino , Desnutrição/etiologia , Multimorbidade , Nutrição Parenteral Total/métodos , Pneumonia Bacteriana/diagnóstico , Pneumonia Bacteriana/terapia , Prognóstico , Doenças Raras , Insuficiência Respiratória/diagnóstico , Insuficiência Respiratória/terapia , Medição de Risco , Resultado do Tratamento , Zinco/administração & dosagemRESUMO
The essential trace element zinc (Zn) plays a key role in the development, differentiation and growth of various human tissues. Zinc homeostasis is primarily regulated by two zinc transporter families (solute-linked carrier families, SLC). Disturbances in zinc metabolism may give rise to disorders that typically manifest themselves on the skin. An autosomal recessive zinc deficiency disorder, acrodermatitis enteropathica is caused by a mutation in the gene coding for the ZIP4 transporter. Due to intestinal malabsorption, affected infants develop clinical signs and symptoms shortly after weaning. Acquired zinc deficiency is a rare but underdiagnosed disorder associated with various etiologies and variable clinical manifestations. Depending on the patient's age, a multitude of causes have to be considered. Given the characteristic periorificial and acral lesions, the clinical diagnosis is usually made by dermatologists. Laboratory confirmation includes measurement of plasma zinc levels and - as a supplementary measure - zinc-dependent enzymes such as alkaline phosphatase. Oral zinc replacement therapy frequently leads to clinical remission within a few days. Depending on the cause, disease management should include cooperation with pediatricians and gastroenterologists in order to guarantee optimal patient care.
Assuntos
Dermatopatias/etiologia , Zinco/fisiologia , Acrodermatite/etiologia , Acrodermatite/patologia , Criança , Pré-Escolar , Diagnóstico Diferencial , Doenças do Cabelo/etiologia , Humanos , Lactente , Síndromes de Malabsorção/complicações , Dermatopatias/patologia , Cicatrização/fisiologia , Zinco/deficiênciaRESUMO
In elderly or chronically ill patients, nutritional deficiencies are common and the presence of related skin lesions is not unusual. Recognition of such cutaneous involvement is important regarding the diagnosis essentially based on clinical elements. By using some clinical case reports, we will describe several pathologies related to nutritional deficiencies like scurvy, pellagra and acquired acrodermatitis enteropathica.
Dans nos populations de patients vieillissants ou atteints de maladies chroniques, les carences nutritionnelles sont fréquentes et la présence de manifestations dermatologiques associées n'est pas rare. La reconnaissance de telles atteintes cutanées est importante pour le diagnostic qui est essentiellement clinique. A l'aide de vignettes cliniques, nous allons discuter ici de pathologies carentielles comme le scorbut, la pellagre ainsi que l'acrodermatite entéropathique acquise.
Assuntos
Desnutrição/complicações , Desnutrição/patologia , Dermatopatias/etiologia , Dermatopatias/patologia , Acrodermatite/etiologia , Acrodermatite/patologia , Doença Crônica , Humanos , Pelagra/etiologia , Pelagra/patologia , Escorbuto/etiologia , Escorbuto/patologia , Dermatopatias/diagnósticoRESUMO
Patients with pustular psoriasis or related pustular diseases may have genetic abnormalities impairing the function of key players of the innate skin immune system. Recently, identification of these abnormalities has changed the paradigm of several of these diseases. These include generalized pustular psoriasis, palmoplantar pustular psoriasis and acrodermatitis continua of Hallopeau, and also drug-induced acute exanthematous generalized pustular eruption. Identified mutations in IL36RN, CARD14 and AP1S3 in different groups of patients lead to enhanced inflammatory cascade in several cellular subtypes including keratinocytes, and to the recruitment and activation of neutrophils and macrophages. These insights have unveiled pathophysiological features that shift the existing paradigms and emphasize the autoinflammatory nature of skin pustular disorders. They also highlight the crucial role of the innate immune system across entities belonging to the psoriasis disease spectrum, allowing identification of new appealing therapeutic targets.
Assuntos
Psoríase/patologia , Acrodermatite/genética , Acrodermatite/patologia , Proteínas Adaptadoras de Sinalização CARD/genética , Toxidermias/genética , Toxidermias/patologia , Guanilato Ciclase/genética , Humanos , Imunidade Inata/fisiologia , Interleucinas/genética , Proteínas de Membrana/genética , Mutação/genética , Medicina de Precisão , Psoríase/genética , Psoríase/terapia , Proteínas de Transporte Vesicular/genéticaRESUMO
Methylmalonic acidaemia (MMA) is an inborn error of amino acid metabolism that may be associated with cutaneous manifestations mimicking other diagnoses, including staphylococcal scalded skin syndrome (SSSS), psoriasis and acrodermatitis enteropathica. Whether this is due to the underlying metabolic disorder itself or occurs as a consequence of dietary restriction has yet to be elucidated. Skin biopsies typically show histological features shared by a number of other metabolic disorders and nutritional deficiency-associated diseases. Some presentations, especially SSSS-like eruptions, may be associated with acute metabolic decompensation. An underlying metabolic disorder, such as MMA, should be considered in a diagnosed adult or undiagnosed child presenting with skin eruptions that resemble those listed above, so that specialist management may be initiated early.
Assuntos
Acrodermatite/etiologia , Erros Inatos do Metabolismo dos Aminoácidos/complicações , Pele/patologia , Acrodermatite/diagnóstico , Acrodermatite/patologia , Adulto , Erros Inatos do Metabolismo dos Aminoácidos/diagnóstico , Biópsia , Diagnóstico Diferencial , Feminino , HumanosRESUMO
Acrodermatitis chronica atrophicans (ACA) that is characterized by thin, papery dry, translucent, and alopecic patches with visible superficial veins is a late cutaneous manifestation of Lyme borreliosis. Clinical findings, a history of exposure to tick bite, and serology are helpful for the diagnosis of ACA and sometimes a biopsy is performed to rule out other infectious or inflammatory processes. In this study, we report reflectance confocal microscopy (RCM) findings in a case of ACA. RCM examination revealed a flattened surface with broadened skin folds, a flattened dermoepidermal junction with few papillae and less bright basal cells and multiple small bright reflecting spots in the dermis. To the best of our knowledge, this is the first description of the RCM findings in this disorder.