RESUMO
Congenital insensitivity to pain (CIP) is a rare phenotype characterized by the inability to perceive pain stimuli with subsequent self-injuries, whereas CIP associated with anhidrosis (CIPA) is an overlapping phenotype mainly characterized by insensitivity to noxious stimuli and anhidrosis. CIP is primarily associated with pathogenetic variants in the SCN9A gene while CIPA is associated with pathogenetic variants in NGF and NRTK genes. However, in recent years, a significant overlap between these two disorders has been observed highlighting the presence of anhidrosis in SCN9A variants. We report the cases of two siblings (age 4 and 6 years) born from consanguineous parents presenting with a previously undescribed phenotype due to a novel pathogenic variant in SCN9A clinically characterized by congenital insensitivity to pain, anhidrosis, and mild cognitive impairment.
Assuntos
Canalopatias , Disfunção Cognitiva , Neuropatias Hereditárias Sensoriais e Autônomas , Hipo-Hidrose , Indóis , Insensibilidade Congênita à Dor , Propionatos , Humanos , Pré-Escolar , Criança , Insensibilidade Congênita à Dor/genética , Hipo-Hidrose/genética , Mutação , Receptor trkA/genética , Dor/genética , Disfunção Cognitiva/genética , Neuropatias Hereditárias Sensoriais e Autônomas/genética , Canal de Sódio Disparado por Voltagem NAV1.7/genéticaRESUMO
Hookworm-related cutaneous larva migrans is an infestation of the skin caused by nematodes. Involvement of genitals is extremely rare. We report the case of a child with this infestation on the penis who cleared rapidly with topical ivermectin.
Assuntos
Infecções por Uncinaria/diagnóstico , Infecções por Uncinaria/terapia , Larva Migrans/diagnóstico , Larva Migrans/terapia , Doenças do Pênis/diagnóstico , Doenças do Pênis/parasitologia , Animais , Pré-Escolar , Humanos , Masculino , Doenças do Pênis/terapiaAssuntos
Neoplasias da Mama , Axila , Feminino , Humanos , Linfonodos , Metástase Linfática , Estudos RetrospectivosRESUMO
Papular epidermal nevus with "skyline" basal cell layer (PENS), a novel keratinocytic nevus, has recently been described as a mosaic condition with varying presentations. We herein describe typical PENS lesions, which usually occur sporadically, affecting two members of the same family. The concept of paradominant inheritance is proposed to explain the paradox of occasional transmission of normally sporadically occurring traits.
Assuntos
Epiderme/patologia , Queratinócitos/patologia , Nevo Pigmentado/genética , Nevo Pigmentado/patologia , Neoplasias Cutâneas/genética , Neoplasias Cutâneas/patologia , Biópsia , Família , Feminino , Humanos , Lactente , Masculino , Nevo , Adulto JovemRESUMO
X-linked reticulate pigmentation disorder with systemic manifestations (XLPDR) is an extremely rare genodermatosis with recessive X-linked inheritance but unknown molecular basis. In males, cutaneous involvement is characterized by reticulate hyperpigmentation of the skin that is associated with a typical facies and severe systemic involvement. In the carrier females, manifestations are apparently limited to the skin with patchy linear hyperpigmentation following the lines of Blaschko that are similar to stage III incontinentia pigmenti. Thus far, only five families affected by this disorder have been described. We report on a new family with clinical features of XLPDR and compare it with those reported in the literature.
Assuntos
Genes Ligados ao Cromossomo X/genética , Doenças Genéticas Ligadas ao Cromossomo X/genética , Hiperpigmentação/genética , Incontinência Pigmentar/genética , Pele/patologia , Pré-Escolar , Diagnóstico Diferencial , Feminino , Doenças Genéticas Ligadas ao Cromossomo X/complicações , Doenças Genéticas Ligadas ao Cromossomo X/diagnóstico , Ligação Genética , Heterozigoto , Humanos , Hiperpigmentação/complicações , Hiperpigmentação/diagnóstico , Incontinência Pigmentar/complicações , MasculinoRESUMO
Follicular mucinosis represents a term for a histopathologic reaction pattern in follicular epithelium. It is a characteristic of alopecia mucinosa. However, it may also occur in a variety of unrelated conditions. Epidermal nevi are considered to be hamartomatous disorders and they can show a predominant component of non-organoid (keratinocytes) and/or organoid nevi. All the cases of epidermal nevi described with mucin deposits until now are reported as mucinous nevus or mucinous eccrine nevus; in the first type of disorder, diffuse mucin deposition is only seen in the papillary dermis, and in the second type, the mucin is found around the proliferation of eccrine structures. We believe this is the first reported case of epidermal nevus along Blaschko's lines exhibiting typical microscopic findings of mucinosis exclusively distributed inside the follicular epithelia.
Assuntos
Folículo Piloso , Mucinose Folicular , Nevo , Neoplasias Cutâneas , Pele , Criança , Feminino , Folículo Piloso/metabolismo , Folículo Piloso/patologia , Humanos , Queratinócitos/metabolismo , Queratinócitos/patologia , Mucinose Folicular/metabolismo , Mucinose Folicular/patologia , Mucinas/metabolismo , Nevo/metabolismo , Nevo/patologia , Pele/metabolismo , Pele/patologia , Neoplasias Cutâneas/metabolismo , Neoplasias Cutâneas/patologiaRESUMO
Papular epidermal nevus with "skyline" basal cell layer (PENS), a variant of epidermal nevi, has recently been described as a small, round or polygonal papule, visible at birth or shortly thereafter, with characteristic histopathologic features. It has been considered a separate entity from keratinocytic nevi because no lesion observed thus far has followed any of the known archetypical mosaic patterns. Here we describe for the first time a PENS lesion following a linear distribution pattern along Blaschko's lines.
Assuntos
Epiderme/patologia , Neoplasias Cutâneas/patologia , Adolescente , Biópsia , Humanos , Masculino , Nevo/patologia , OmbroRESUMO
Netherton syndrome (NS) is a rare autosomal recessive disorder caused by SPINK5 mutations, resulting in a deficiency in its processed protein LEKTI. It is clinically characterized by the triad of congenital ichthyosis, atopic diathesis, and hair shaft abnormalities. The SPINK5 (NM_006846.4): c.1258A>G polymorphism (rs2303067) shows a significant association with atopy and atopic dermatitis (AD), which share several clinical features with NS. We describe an NS patient, initially misdiagnosed with severe AD, who carried the heterozygous frameshift (null) mutation (NM_006846.4): c.957_960dup combined with homozygous rs2303067 in the SPINK5 gene. Histopathological examination confirmed the diagnosis, whereas an immunohistochemical study showed normal epidermal expression of LEKTI, despite the genetic findings. Our results corroborate the hypothesis that haploinsufficiency of SPINK5, in the presence of a SPINK5 null heterozygous mutation in combination with homozygous SPINK5 rs2303067 polymorphism, can be causative of an NS phenotype, impairing the function of LEKTI despite its normal expression. Due to the clinical overlap between NS and AD, we suggest performing SPINK5 genetic testing to search for the SPINK5 (NM_006846.4): c.1258A>G polymorphism (rs2303067) and ensure a correct diagnosis, mainly in doubtful cases.
Assuntos
Dermatite Atópica , Eritrodermia Ictiosiforme Congênita , Síndrome de Netherton , Humanos , Mutação da Fase de Leitura , Síndrome de Netherton/genética , Inibidor de Serinopeptidase do Tipo Kazal 5/genética , Mutação , Eritrodermia Ictiosiforme Congênita/genética , Dermatite Atópica/genéticaRESUMO
Aim: To investigate the efficacy and tolerability of a cream (Rilastil Xerolact PB) containing a mixture of prebiotics and postbiotics, and to validate the PRURISCORE itch scale in the management of atopic dermatitis.Methods: The study is based on 396 subjects of both sexes in three age groups (i.e., infants, children, adults) suffering from mild/moderate Atopic Dermatitis, recruited from 8 European countries and followed for 3 months.Results: The product demonstrated good efficacy combined with good/very good tolerability in all age groups. In particular, SCORAD, PRURISCORE and IGA scores decreased significantly over the course of the study. The PRURISCORE was preferred to VAS by the vast majority of patients.Conclusion: Even though the role of prebiotics and postbiotics was not formally demonstrated since these substances were part of a complex formulation, it can be reasonably stated that prebiotics and postbiotics have safety and standardization features that probiotics do not have. In addition they are authorized by regulatory authorities, whereas topical probiotics are not.
Assuntos
Dermatite Atópica , Probióticos , Criança , Masculino , Lactente , Adulto , Feminino , Humanos , Dermatite Atópica/tratamento farmacológico , Prebióticos , Probióticos/uso terapêutico , Prurido , Emolientes , Índice de Gravidade de DoençaAssuntos
Dermoscopia , Dermatoses do Pé/patologia , Ceratose/patologia , Idoso de 80 Anos ou mais , Humanos , MasculinoRESUMO
BACKGROUND: Delayed puberty is a possible complication of Epidermolysis Bullosa (EB), though the actual incidence is still unknown. In chronic illnesses delayed puberty should be correctly managed since, if untreated, can have detrimental effects on adult height attainment, peak bone mass achievement and psychological health. AIMS AND METHODS: This is a single-centre study on pubertal development, growth and bone status in EB. Auxological, densitometric (areal Bone Mineral Density-aBMD Z-score, Bone Mineral Apparent Density-BMAD Z-score, Trabecular Bone Score-TBS and Bone Strain Index-BSI at Lumbar spine) and body composition data (Total Body DXA scans) were collected. Disease severity was defined according to Birmingham Epidermolysis Bullosa Severity (BEBS) score. RESULTS: Twenty-one patients (12 Recessive Dystrophic EB-RDEB, 3 Dominant Dystrophic EB, 3 Junctional EB-JEB, 2 EB Simplex and one Kindler EB) aged 13 years (females) or 14 years (males) and above were enrolled (age 16.2±2.5 years, M/F 11/10). Short stature was highly prevalent (57%, mean height -2.12±2.05 SDS) with 55% patients with height <-2SD their mid-parental height. 7/21 patients (33%, 6 RDEB and 1 JEB) had delayed puberty with a median BEBS of 50 (range 29 to 63), a height SDS of -2.59 SDS (range -5.95 to -2.22) and a median lumbar BMAD Z-score of -4.0 SDS (range -5.42 to -0.63 SDS). Pubertal status was negatively associated with BEBS, skin involvement, inflammatory state and positively with height SDS and BMI SDS. CONCLUSIONS: Pubertal delay is highly prevalent in EB, especially in patients with RDEB and JEB, high severity score and inflammatory state. Moreover, pubertal delay worsens growth impairment and bone health. A study on pubertal induction is ongoing to enlighten possible beneficial effects on adult height attainment and peak bone mass accrual.
Assuntos
Epidermólise Bolhosa Distrófica , Epidermólise Bolhosa , Puberdade Tardia , Adulto , Densidade Óssea , Osso Esponjoso , Epidermólise Bolhosa/complicações , Feminino , Humanos , Masculino , Puberdade Tardia/complicaçõesRESUMO
BACKGROUND: Harlequin ichthyosis (HI) is the most severe phenotype of autosomal recessive congenital ichthyosis. Juvenile Idiopathic Arthritis (JIA) represents a heterogenous group of disorders all sharing the clinical manifestation of chronic arthritis. Association of HI and chronic arthritis has been reported in few cases. CASE PRESENTATION: We report the case of a child with HI who developed a severe form of chronic polyarthritis during the first years of life, treated with repeated multiple joint injections, methotrexate and etanercept with good response and without any adverse events. CONCLUSION: The reported case and the literature review highlighted the presence of a peculiar severe seronegative polyarthritis with early onset in a series of patients with HI, suggesting that polyarthritis may be a specific manifestation of HI, rather than a rare combination of two separate conditions.
Assuntos
Antirreumáticos/uso terapêutico , Artrite Juvenil/complicações , Artrite Juvenil/tratamento farmacológico , Etanercepte/uso terapêutico , Ictiose Lamelar/complicações , Ictiose Lamelar/tratamento farmacológico , Criança , Humanos , MasculinoRESUMO
BACKGROUND: Living with a rare disease has profound effects on the patient's life and that of their entire family, with practical and psychosocial consequences. This is particularly true when the patient is a child. The principal aim of this study was to measure the family burden in Epidermolysis Bullosa (EB). The secondary endpoint was to evaluate the possible correlation between family burden and the severity of EB. METHODS: A sample of 50 families with one or two children affected by EB were recruited between January 2016 and February 2017 to answer a 20-item questionnaire - the EB Burden of Disease (EB-BoD) - developed and validated to assess the family burden of children with EB. RESULTS: The presence of a child with EB may have profound negative implications on several different areas of daily life. In particular, the results demonstrate important differences between the different subtypes of epidermolysis bullosa regarding most of the categories considered by the questionnaire. For three categories out of four (family life, child's life, economic and social impact), a higher score is observed for children with the more debilitating forms of EB: recessive dystrophic EB (RDEB) and junctional EB (JEB). CONCLUSIONS: It is important to work with patients and their families to identify and strengthen adaptive and coping behaviors. That is possible only through the synergistic working of a multidisciplinary team made up of experienced doctors, psychologists, and social workers while in contact with patient Associations.
Assuntos
Epidermólise Bolhosa Distrófica , Epidermólise Bolhosa Juncional , Epidermólise Bolhosa , Criança , Humanos , Inquéritos e QuestionáriosRESUMO
The autosomal recessive congenital ichthyoses (ARCI) are a nonsyndromic group of cornification disorders that includes lamellar ichthyosis, congenital ichthyosiform erythroderma, and harlequin ichthyosis. To date mutations in ten genes have been identified to cause ARCI: TGM1, ALOX12B, ALOXE3, NIPAL4, CYP4F22, ABCA12, PNPLA1, CERS3, SDR9C7, and SULT2B1. The main focus of this report is the mutational spectrum of the genes ALOX12B and ALOXE3, which encode the epidermal lipoxygenases arachidonate 12-lipoxygenase, i.e., 12R type (12R-LOX), and the epidermis-type lipoxygenase-3 (eLOX3), respectively. Deficiency of 12R-LOX and eLOX3 disrupts the epidermal barrier function and leads to an abnormal epidermal differentiation. The type and the position of the mutations may influence the ARCI phenotype; most patients present with a mild erythrodermic ichthyosis, and only few individuals show severe erythroderma. To date, 88 pathogenic mutations in ALOX12B and 27 pathogenic mutations in ALOXE3 have been reported in the literature. Here, we presented a large cohort of 224 genetically characterized ARCI patients who carried mutations in these genes. We added 74 novel mutations in ALOX12B and 25 novel mutations in ALOXE3. We investigated the spectrum of mutations in ALOX12B and ALOXE3 in our cohort and additionally in the published mutations, the distribution of these mutations within the gene and gene domains, and potential hotspots and recurrent mutations.
Assuntos
Araquidonato 12-Lipoxigenase/genética , Eritrodermia Ictiosiforme Congênita/genética , Lipoxigenase/genética , Mutação , Adulto , Estudos de Coortes , Feminino , Humanos , MasculinoRESUMO
Skin protects its host from its environment and allows their interactions by providing a physical permeability barrier, protection from infectious agents, thermoregulation, and ultraviolet protection. Textiles, in particular clothing, interact with skin functions in a dynamic pattern. For years cotton has been considered as the only comfortable tissue suitable for patients with dermatologic disorders. Nowadays new synthetic fibers with important functions, for example breathability and waterproofing have leaned out and new tissues can be used as a complementary tool in dermatologic treatments. Our purpose is to report the main fibers used for dermatological problems and to review the literature on their use in dermatological field; finally, we also report our personal experience on this topic.