RESUMEN
Although rare, cases of infantile or childhood bullous pemphigoid are increasingly being reported in the literature. Treatment challenges, which are amplified in infancy, necessitate balancing efficacy and avoiding long-term risks. In this report, clarithromycin was successfully used to establish and maintain disease remission, offering insights into its immunomodulatory effects, making it a compelling steroid-sparing choice with a favorable side effect profile.
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Penfigoide Ampolloso , Humanos , Niño , Penfigoide Ampolloso/tratamiento farmacológico , Claritromicina/uso terapéutico , Esteroides/uso terapéuticoRESUMEN
Children with genodermatoses are at an increased risk of developing behavioural disorders which may impart lasting damage on the individual and their family members. As such, early recognition of childhood mental health disorders via meticulous history taking, thorough physical examination, and disorder-specific testing is of paramount importance for timely and effective intervention. If carried out properly, prompt psychiatric screening and intervention can effectively mitigate, prevent or even reverse, the psychiatric sequela in question. To that end, this review aims to inform the concerned physician of the manifestations and treatment strategies relevant to the psychological sequelae of genodermatoses.
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Trastornos Mentales , Enfermedades Cutáneas Genéticas , Niño , Humanos , Trastornos Mentales/diagnóstico , Trastornos Mentales/etiología , Trastornos Mentales/psicología , Enfermedades Cutáneas Genéticas/complicacionesRESUMEN
-A 14-month-old boy born to consanguineous parents presented to our Dermatology Department with a 6-month history of a malar eczematous rash that worsens with sun exposure. He had butterfly-shaped, hyperpigmented exfoliating plaques, preceded by blister formation (figure 1). He was also noticed to have enophthalmos, a pinched nose, microcephaly and a cachectic physique. His height and weight were below the first percentile for his age. In addition, the patient was noticed to have motor and psychosocial delay; he does not respond to simple spoken requests, cannot get into sitting position without help or stand/walk with help of furniture. The eye examination was completely normal including the absence of retinal and corneal changes. Complete blood count, liver function tests and a karyotype did not show any abnormal findings. Imaging studies were not done.edpract;107/1/28/F1F1F1Figure 1Clinical image. A hyperpigmented exfoliating plaque distributed over the malar area associated with enophthalmos and a pinched nose. WHAT'S YOUR DIAGNOSIS?: Bloom syndrome.Rothmund Thomson syndrome.Cockayne syndrome.Xeroderma pigmentosum.Trichothiodystrophy. Answers can be found on page 02.
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Exantema , Xerodermia Pigmentosa , Estatura , Humanos , Lactante , MasculinoRESUMEN
Hearing loss is a prominent feature in multiple genodermatoses. Underappreciation of auditory deficits can misdirect proper diagnosis by the treating dermatologist. This review reviews the anatomic, developmental, and embryologic aspects that characterize the ear and summarizes genodermatoses that have aberrant auditory findings. The latter are classified into neural crest, metabolic, pigmentary, craniofacial, and a miscellaneous category of disorders lacking specific cutaneous findings. The algorithms provided in this review enable treating dermatologists to better recognize and manage genodermatoses with ear involvement.
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Pérdida Auditiva , Sordera , Pérdida Auditiva/diagnóstico , Pérdida Auditiva/genética , HumanosRESUMEN
Imatinib mesylate is a tyrosine kinase inhibitor used in the treatment of a variety of oncological conditions. It has been associated with a spectrum of pigmentary cutaneous side effects. Despite the well-known association of eruptive melanocytic nevi with the use of other tyrosine kinase inhibitors, this phenomenon has not been linked to the administration of imatinib. We present the first case of imatinib-induced eruptive nevi in an 18-year-old patient with acute lymphocytic leukaemia in remission.
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Mesilato de ImatinibRESUMEN
ABSTRACT: Osteoclast-like giant cells (OLGCs) resemble osteoclasts with their abundant cytoplasm and well-developed organelles. OLGCs are characteristic features of giant cell tumor of the tendon sheath and giant cell tumor of soft tissue but they have also been described in numerous other cutaneous conditions. The diagnostic and prognostic significance of the presence of OLGCs is unknown. Here, we summarize the clinical entities that can exhibit these cells to avoid a histological overlap, affecting diagnosis and management.
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Células Gigantes/patología , Osteoclastos/patología , Enfermedades de la Piel/patología , Piel/patología , Biopsia , Células Gigantes/metabolismo , Humanos , Osteoclastos/metabolismo , Fenotipo , Piel/metabolismo , Enfermedades de la Piel/metabolismoRESUMEN
Discoid lupus erythematosus (DLE) is an autoimmune disorder with a poorly defined etiology. Despite epidemiologic gender and ethnic biases, a clear genetic basis for DLE remains elusive. In this study, we used exome and RNA sequencing technologies to characterize a consanguineous Lebanese family with four affected individuals who presented with classical scalp DLE and generalized folliculitis. Our results unraveled a novel biallelic variant c.1313C > A leading to a missense substitution p.(Thr438Asn) in TRAF3IP2(NM_147200.3). Expression studies in cultured cells revealed mis-localization of the mutated protein. Functional characterization of the mutated protein showed significant reduction in the physical interaction with the interleukin 17-A receptor (IL17RA), while interaction with TRAF6 was unaffected. By conducting a differential genome-wide transcriptomics analysis between affected and non-affected individuals, we showed that the hair follicle differentiation pathway is drastically suppressed, whereas cytokine and inflammation responses are significantly upregulated. Furthermore, our results were highly concordant with molecular signatures in patients with DLE from a public dataset. In conclusion, this is the first report on a new putative role for TRAF3IP2 in the etiology of DLE. The identified molecular features associated with this gene could pave the way for better DLE-targeted treatment.
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Proteínas Adaptadoras Transductoras de Señales/genética , Alopecia/genética , Péptidos y Proteínas de Señalización Intracelular/genética , Lupus Eritematoso Discoide/genética , Receptores de Interleucina-17/genética , Adolescente , Alopecia/diagnóstico por imagen , Alopecia/patología , Niño , Preescolar , Consanguinidad , Femenino , Foliculitis/diagnóstico por imagen , Foliculitis/genética , Foliculitis/patología , Predisposición Genética a la Enfermedad , Humanos , Lupus Eritematoso Discoide/diagnóstico por imagen , Lupus Eritematoso Discoide/patología , Masculino , Linaje , Unión Proteica/genética , Mapas de Interacción de Proteínas , Análisis de Secuencia de ARN , Secuenciación del ExomaRESUMEN
Psoriasis is an inflammatory skin disorder that is strongly associated with the metabolic syndrome. The sole reliance on clinical examination to guide prognostication and treatment is insufficient at best; accurate diagnostic and prognostic psoriatic molecular biomarkers are needed. Soluble urokinase plasminogen activator receptor (suPAR) has been implicated in inflammation. The aim of this study is to determine whether suPAR plays a role in the pathogenesis of psoriasis and whether an association exists between suPAR levels, disease severity, and other variables like insulin, erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP). This study also compares the pattern of uPAR staining in healthy vs psoriatic skin: 39 psoriatic and 30 control subjects were included. Two biopsies (affected and unaffected skin) and one biopsy were taken from psoriasis patients and healthy controls, respectively, with uPAR staining of all skin biopsies. Blood samples from all subjects were obtained to determine suPAR, ESR, CRP, and fasting insulin levels. uPAR staining was prominent in unaffected skin from psoriasis patients and healthy individuals vs weak/absent uPAR staining in psoriatic skin. CRP, ESR and suPAR levels were not significantly elevated in the mild psoriasis group compared to healthy controls. The loss of epidermal uPAR is suggestive of its tentative role in the pathogenesis of psoriasis. Patients with mild-moderate psoriasis possibly lack the powerful association attributed to metabolic syndrome in psoriatic patients. Further studies on larger cohorts are needed to ascertain the validity of the mentioned conclusions.
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Psoriasis/sangre , Receptores del Activador de Plasminógeno Tipo Uroquinasa/sangre , Adulto , Biomarcadores/sangre , Humanos , Masculino , Persona de Mediana Edad , Psoriasis/patologíaRESUMEN
Neuroendocrine differentiation is characterized by endocrine and neuronal features with prominent dense secretory granules and neuropeptides. Neuroendocrine differentiation of skin tumors is of unknown clinical significance. Nonetheless, the acknowledgment of this line of differentiation is important to prevent diagnostic pitfalls and subsequent inappropriate management. This review aims at summarizing the skin neoplasms that can express neuroendocrine markers.
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Diferenciación Celular , Tumores Neuroendocrinos/patología , Neoplasias Cutáneas/patología , Biomarcadores de Tumor/análisis , Carcinoma de Células de Merkel/química , Carcinoma de Células de Merkel/patología , Diagnóstico Diferencial , Humanos , Inmunohistoquímica , Tumores Neuroendocrinos/química , Valor Predictivo de las Pruebas , Neoplasias Cutáneas/químicaRESUMEN
Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects (CHILD syndrome) is a rare X-linked dominant genodermatosis caused by mutations in the NAD(P) dependent steroid dehydrogenase-like protein gene. Its defect leads to accumulation of toxic metabolic intermediates upstream from the pathway block and to the deficiency of bulk cholesterol, probably leading to altered keratinocyte membrane function, resulting in the phenotype seen in CHILD syndrome. Symptomatic treatment using emollients and retinoids to reduce scaling has long been used until recently, whereby new therapeutic means based on the pathogenesis-targeted therapy have been developed. We subsequently chose to use the same pathogenesis-based therapy using a 2% cholesterol and 2% lovastatin cream with or without glycolic acid in two of our patients. Improvement in CHILD skin lesions was seen as early as 4 weeks after initiation. The addition of glycolic acid helped improve the penetrance of the cholesterol and lovastatin cream into the thick waxy scales. Our study confirms the efficacy of the pathogenesis-targeted therapy and introduces the possibility of modifying its formula by adding glycolic acid in order to improve the treatment.
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Anomalías Múltiples/diagnóstico , Anomalías Múltiples/genética , Enfermedades Genéticas Ligadas al Cromosoma X/diagnóstico , Enfermedades Genéticas Ligadas al Cromosoma X/genética , Eritrodermia Ictiosiforme Congénita/diagnóstico , Eritrodermia Ictiosiforme Congénita/genética , Deformidades Congénitas de las Extremidades/diagnóstico , Deformidades Congénitas de las Extremidades/genética , 3-Hidroxiesteroide Deshidrogenasas/genética , Anomalías Múltiples/terapia , Biopsia , Niño , Colesterol/administración & dosificación , Femenino , Enfermedades Genéticas Ligadas al Cromosoma X/terapia , Humanos , Eritrodermia Ictiosiforme Congénita/terapia , Deformidades Congénitas de las Extremidades/terapia , Lovastatina/administración & dosificación , Mutación , Fenotipo , Piel/patología , Resultado del TratamientoRESUMEN
Soluble urokinase plasminogen activator receptor (suPAR) is a circulating form of a physiological and pathophysiological important cell surface receptor, implicated in inflammation. Recent studies showed that suPAR is a promising biomarker, useful for diagnosis, assessment and prognosis of several diseases. This review summarises the majority of preliminary studies and analyses the significance and the clinical application of suPAR in various clinical conditions. SuPAR seems to have a significant value in the diagnosis as well as prognosis of many diseases; nonetheless, it merits large-scale studies to set cut-off values that help physicians in following up their patients and accordingly tailor their treatment plans.
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Biomarcadores/sangre , Inflamación/sangre , Enfermedades Renales/sangre , Receptores del Activador de Plasminógeno Tipo Uroquinasa/sangre , Humanos , PronósticoAsunto(s)
Eritema Indurado , Vacuna BCG/efectos adversos , Humanos , Inmunoterapia/efectos adversos , PielRESUMEN
Infantile hemangiomas (IHs) are the most common benign vascular tumors of childhood. They develop during the first few weeks of life and naturally progress by proliferating over several months before they involute and resolve; this renders them inconsequential in many cases, but sometimes IHs can have detrimental consequences on function and disfigurement. Hence, systemic propranolol has become a crucial element in IH management, alongside various other medical, procedural, and surgical options that aim to promote their quicker resolution and prevent and alleviate complications.
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Hemangioma Capilar , Hemangioma , Neoplasias Cutáneas , Hemangioma/terapia , Hemangioma Capilar/terapia , Humanos , Lactante , Propranolol/uso terapéutico , Neoplasias Cutáneas/terapia , Resultado del TratamientoRESUMEN
Eosinophilic ulcer of the oral mucosa is a benign, reactive, self-limited lesion. Its pathogenesis is unclear, and it clinically manifests as a punched-out ulcer with surrounding indurated border, raising suspicion for a possible malignancy. On histology, an acute and chronic dense inflammatory infiltrate can be appreciated, which can extend to the deep underlying tissue (including skeletal muscle). Eosinophils are especially conspicuous on hematoxylin and eosin staining and might play an important role in the development of the ulcer. Removal of possible triggers followed by monitoring and possible biopsy are among the initial recommendations. Most lesions heal spontaneously without the need for intervention. This review aims at assisting dermatologists to easily recognize this entity, avoiding unnecessary interventions and apprehension.
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Eosinofilia , Úlceras Bucales , Eosina Amarillenta-(YS) , Eosinofilia/diagnóstico , Eosinofilia/etiología , Eosinofilia/terapia , Hematoxilina , Humanos , Mucosa Bucal/patología , Úlceras Bucales/etiología , Úlceras Bucales/terapia , Úlcera/complicaciones , Úlcera/patologíaRESUMEN
BACKGROUND: Heredity Hypotrichosis Simplex (HHS) is a rare non-syndromic disease form of Hypotrichosis Simplex (HS) characterized by progressive hair follicle (HF) miniaturization. It is usually inherited in an autosomal dominant manner. The differential diagnosis of HHS and the treatments remain challenging despite recent advancement. In this report, we describe a 19-year old female affected with HHS alongside most of her family members. METHODS: Whole Exome Sequencing (WES) was performed for some of the family members to unravel the culprit gene involved in HHS phenotype and ascertain the dermatological examination that was done to classify the phenotypes of the disease. RESULTS: A novel pathogenic variant in the CDH3 gene (p.Ser223GlyfsTer4) was identified as a plausible disease-causing variant for HHS. CONCLUSION: This is the first report to associate CDH3 variants with a HHS phenotype without macular degeneration using WES. WES is an important tool for genotype-phenotype correlation, precision in diagnosis, and in-depth understanding of the disease mechanisms, leading to possible novel therapeutic targets treatment and better patient's outcomes.
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The term 'inherited ichthyosis' refers to a heterogeneous group of mendelian disorders of cornification that involve the integument with varying degrees of scaling. The management of ichthyosis poses a challenge for most physicians. Treatment options proposed in the literature include moisturizers, topical keratolytics, topical and systemic vitamin D analogues, and topical and systemic retinoids; however, some of these modalities are less reliable than others. Despite the therapeutic impasse imposed by the options above, the emergence of pathogenesis-based treatments along with novel gene therapies appear promising and hold the potential to halt or even revert disorders that arise from single genetic mutations, although research is still quite lacking in this domain. Hence, this review aims to highlight the various treatment modalities available for the management of the cutaneous manifestations of non-syndromic inherited ichthyosis, with an added emphasis on pathogenesis-targeted therapies.
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Ictiosis , Humanos , Ictiosis/genética , Ictiosis/terapia , Queratolíticos/uso terapéutico , Mutación , Retinoides/uso terapéutico , Vitamina DRESUMEN
Amyloid is a protein derived from at least 20 different substances. Once misfolded, it results in a group of cutaneous and systemic conditions. Primary localized cutaneous amyloidosis of keratinocyte origin is a very common subtype that can manifest either as lichen or macular amyloidosis, lacking systemic involvement. Lichen amyloidosis often presents as multiple hyperpigmented papules on the lower extremities whereas macular amyloidosis is classically characterized by dark brown rippled macules on the interscapular area. Review of the literature reveals that in addition to the classical presentation of primary localized cutaneous amyloidosis there exists a plethora of various manifestations that can be grouped into either geographic or morphologic categories. This review provides clinicians with the intimate knowledge of these presentations and summarizes the available treatment modalities.