RESUMEN
Hypomelanosis of Ito is a rare heterogeneous neurocutaneous disorder often associated with central nervous and musculoskeletal system involvement. Herein, we report the first case of hypomelanosis of Ito in the literature presenting with unilateral dilation of Virchow-Robin spaces (VRS). A girl aged 16 years old presented with a 1-year history of headache. Her physical and neurological examinations were normal, except for the presence of unilateral cutaneous macular hypopigmented whorls and streaks on lower side of the right trunk and lower limb, termed as Blaschko's lines. She had mild deficits in cognitive and adaptive functioning. Hearing, renal, dental, ophthalmologic, metabolic, and cardiac assessments were normal. Brain magnetic resonance imaging (MRI) showed markedly unilateral hemispheric enlarged VRS without contrast enhancement and diffusion restriction. To the best of our knowledge, our case is the first report describing the unilateral hemispheric enlarged VRS in a patient with hypomelanosis of Ito. Our report suggested that hypomelanosis of Ito may have unilateral dilation of VRS in brain MRI.
Asunto(s)
Sistema Glinfático , Hipopigmentación , Adolescente , Dilatación , Dilatación Patológica , Femenino , Humanos , Hipopigmentación/complicaciones , Hipopigmentación/diagnóstico por imagen , Imagen por Resonancia MagnéticaAsunto(s)
Hipopigmentación/diagnóstico por imagen , Piel/diagnóstico por imagen , Encéfalo/diagnóstico por imagen , Preescolar , Discapacidades del Desarrollo/complicaciones , Discapacidades del Desarrollo/diagnóstico por imagen , Humanos , Hipopigmentación/complicaciones , Síndrome de Lennox-Gastaut/complicaciones , Síndrome de Lennox-Gastaut/diagnóstico por imagen , Imagen por Resonancia Magnética , Masculino , Síndromes Neurocutáneos/complicaciones , Síndromes Neurocutáneos/diagnóstico por imagenRESUMEN
No disponible
Asunto(s)
Humanos , Femenino , Preescolar , Hiperqueratosis Epidermolítica/diagnóstico , Hiperqueratosis Epidermolítica/patología , Dermoscopía , Hipopigmentación/diagnóstico por imagen , Enfermedades Cutáneas Papuloescamosas/patología , Papulosis Linfomatoide/diagnóstico , Proteínas Activadoras de Esfingolípidos/análisis , Hipopigmentación/patología , Diagnóstico Diferencial , Inmunohistoquímica , Neoplasias Cutáneas/diagnóstico , Neoplasias Cutáneas/patologíaRESUMEN
BACKGROUND: Clinically, depigmentation after local corticosteroid injection is not rare. But there are less articles about its reflectance confocal microscopy (RCM) and histological features. This study aimed to define the RCM features and histopathologic findings of hypopigmentation after local corticosteroid injection and to analyze the correlations between the above two methods. METHODS: Forty cases with hypopigmentation after local corticosteroid injection were used to analyze the clinical and RCM features. Subsequently, for 20 of 40, an excision biopsy of the same imaged areas for histopathologic examination was executed. RESULTS: Our results showed that all 40 cases had round or ellipse hypopigmented macules with obscure boundary and 26 of 40 lesions' long diameter went along limbs. The RCM features and the histological findings revealed all patients had variable degrees of epidermal thinning, flattening rete ridges, reduced melanin, and no inflammatory cell infiltration. MART-1 analysis revealed the number of melanocytes was normal but with no or less melanin by Fontana-Masson staining. CONCLUSIONS: Depigmentation after local corticosteroid injection was a kind of disease with intact melanocytes, whose function was impaired. RCM features offer a high consistency with histopathologic findings. It thus constitutes a promising adjuvant tool for its diagnosis and for therapeutic follow-up.
Asunto(s)
Corticoesteroides/efectos adversos , Hipopigmentación , Microscopía Confocal/métodos , Piel , Corticoesteroides/administración & dosificación , Adulto , Anciano , Femenino , Histocitoquímica , Humanos , Hipopigmentación/inducido químicamente , Hipopigmentación/diagnóstico por imagen , Hipopigmentación/patología , Inyecciones Intradérmicas/efectos adversos , Masculino , Persona de Mediana Edad , Piel/química , Piel/diagnóstico por imagen , Piel/patologíaRESUMEN
Terminal osseous dysplasia with pigmentary defects (TODPD; MIM #300244) is an extremely rare, X-linked dominant, in utero male-lethal disease, characterized by skeletal dysplasia of the limbs, pigmentary defects of the skin, and recurrent digital fibromatosis of childhood. Delayed/abnormal ossification of bones of the hands and feet, joint contractures, and dysmorphic facial features may accompany. A single recurrent mutation (c.5217 G>A) of the FLNA gene which causes cryptic splicing was identified as the cause of the disease. We here present the first TODPD case from Turkey with full-blown phenotype who exhibit unique additional findings, hypopigmented patch on the lower extremity following Blaschko's lines and smooth muscle hamartoma of the scalp in review of all the previously reported TODPD cases.
Asunto(s)
Enfermedades del Desarrollo Óseo/fisiopatología , Filaminas/genética , Dedos/anomalías , Enfermedades Genéticas Ligadas al Cromosoma X/fisiopatología , Deformidades Congénitas de las Extremidades/fisiopatología , Osteocondrodisplasias/fisiopatología , Trastornos de la Pigmentación/fisiopatología , Piel/fisiopatología , Dedos del Pie/anomalías , Enfermedades del Desarrollo Óseo/diagnóstico , Enfermedades del Desarrollo Óseo/diagnóstico por imagen , Enfermedades del Desarrollo Óseo/genética , Preescolar , Femenino , Dedos/diagnóstico por imagen , Dedos/fisiopatología , Enfermedades Genéticas Ligadas al Cromosoma X/diagnóstico , Enfermedades Genéticas Ligadas al Cromosoma X/diagnóstico por imagen , Enfermedades Genéticas Ligadas al Cromosoma X/genética , Mano/fisiopatología , Humanos , Hipopigmentación/diagnóstico por imagen , Hipopigmentación/genética , Hipopigmentación/fisiopatología , Lactante , Deformidades Congénitas de las Extremidades/diagnóstico , Deformidades Congénitas de las Extremidades/diagnóstico por imagen , Deformidades Congénitas de las Extremidades/genética , Mutación , Osteocondrodisplasias/diagnóstico , Osteocondrodisplasias/diagnóstico por imagen , Osteocondrodisplasias/genética , Fenotipo , Trastornos de la Pigmentación/diagnóstico , Trastornos de la Pigmentación/diagnóstico por imagen , Trastornos de la Pigmentación/genética , Dedos del Pie/diagnóstico por imagen , Dedos del Pie/fisiopatología , Turquía/epidemiologíaAsunto(s)
Enfermedad de Bowen/diagnóstico por imagen , Hipopigmentación/diagnóstico por imagen , Melanoma/diagnóstico por imagen , Neoplasias Cutáneas/diagnóstico por imagen , Anciano , Dermoscopía , Diagnóstico Diferencial , Femenino , Humanos , Hipopigmentación/patología , Melanoma/patología , Melanoma/cirugía , Hombro , Piel/diagnóstico por imagen , Piel/patología , Neoplasias Cutáneas/patología , Neoplasias Cutáneas/cirugía , Resultado del TratamientoRESUMEN
No disponible
Asunto(s)
Humanos , Masculino , Persona de Mediana Edad , Hipopigmentación/diagnóstico por imagen , Hamartoma/diagnóstico por imagen , Biopsia , Epidermis/diagnóstico por imagen , Hipopigmentación/cirugía , Hamartoma/patología , Hamartoma/cirugía , Músculo Liso/diagnóstico por imagen , Músculo Liso/patología , Epidermis/patología , DermoscopíaAsunto(s)
Dermatosis del Pie/diagnóstico por imagen , Dermatosis de la Mano/diagnóstico por imagen , Hipopigmentación/diagnóstico por imagen , Adolescente , Biopsia , Dermoscopía , Diagnóstico Diferencial , Femenino , Dermatosis del Pie/patología , Dermatosis de la Mano/patología , Humanos , Hipopigmentación/patología , Masculino , Piel/patología , Adulto JovenRESUMEN
Kallmann syndrome (KS) is a clinically and genetically heterogeneous disorder characterized by hypogonadotropic hypogonadism and olfactory dysfunction. Recently, mutations in SOX10, a well-known causative gene of Waardenburg syndrome (WS), have been identified in a few KS patients with additional developmental defects including hearing loss. However, the understanding of SOX10 mutation associates with KS and other clinical consequences remains fragmentary. A 30-year-old Chinese male patient presented with no pubertal sex development when he was at the age of twelve years. Additionally, he showed anosmia, sensory deafness, and blue irises. Last year, he developed clinical symptoms of hyperthyroidism with a fast heartbeat, heat intolerance and weight loss. Blood examinations revealed low levels of FSH, LH, and testosterone. Thyroid function showed high levels of FT3, FT4 and extremely low level of TSH. Molecular analysis detected a de novo (c.565G>T/p.E189X) mutation in SOX10, which has previously been reported in a patient with WS4 (WS with Hirschsprung). The mutation was predicted to be probably damaging. These results highlight the significance of SOX10 haploinsufficiency as a genetic cause of KS. Importantly, our result implies that the same SOX10 mutation can underlie both typical KS and WS, while the correlation between SOX10 and hyperthyroidism still needs to be clarified in the future.
Asunto(s)
Codón sin Sentido/genética , Sordera/genética , Hipertiroidismo/genética , Hipopigmentación/genética , Síndrome de Kallmann/genética , Factores de Transcripción SOXE/genética , Adulto , Análisis Mutacional de ADN , Sordera/complicaciones , Sordera/diagnóstico por imagen , Humanos , Hipertiroidismo/complicaciones , Hipertiroidismo/diagnóstico por imagen , Hipopigmentación/complicaciones , Hipopigmentación/diagnóstico por imagen , Síndrome de Kallmann/complicaciones , Síndrome de Kallmann/diagnóstico por imagen , Imagen por Resonancia Magnética , MasculinoAsunto(s)
Acné Vulgar/diagnóstico por imagen , Dermatosis Facial/diagnóstico por imagen , Hipopigmentación/diagnóstico por imagen , Queratosis/diagnóstico por imagen , Nariz/anomalías , Acné Vulgar/etiología , Niño , Dermoscopía , Femenino , Humanos , Hipopigmentación/etiología , Queratosis/etiología , Piel/diagnóstico por imagenAsunto(s)
Hipopigmentación/diagnóstico por imagen , Melanoma/diagnóstico por imagen , Neoplasias Cutáneas/diagnóstico por imagen , Diagnóstico Diferencial , Femenino , Humanos , Hipopigmentación/patología , Masculino , Melanoma/patología , Variaciones Dependientes del Observador , Neoplasias Cutáneas/patología , Tomografía de Coherencia ÓpticaAsunto(s)
Cabello/diagnóstico por imagen , Neoplasias de Cabeza y Cuello/diagnóstico por imagen , Hipopigmentación/diagnóstico por imagen , Nevo/diagnóstico por imagen , Cuero Cabelludo , Neoplasias Cutáneas/diagnóstico por imagen , Preescolar , Dermoscopía , Femenino , Color del Cabello , Neoplasias de Cabeza y Cuello/congénito , Humanos , Hipopigmentación/congénito , Lactante , Nevo/congénito , Neoplasias Cutáneas/congénitoAsunto(s)
Butanoles/química , Hipopigmentación/diagnóstico por imagen , Imagenología Tridimensional/métodos , Nevo/diagnóstico por imagen , Vitíligo/diagnóstico por imagen , Adolescente , Adulto , Anciano , Senescencia Celular , Cosméticos , Femenino , Humanos , Masculino , Persona de Mediana Edad , Calidad de Vida , Adulto JovenRESUMEN
BACKGROUND AND OBJECTIVE: Laser "toning" with a Q-switched neodymium-doped yttrium aluminum garnet (Nd:YAG) laser has recently been described to be effective for the treatment of melasma. Leukoderma is a refractory complication of laser toning for melasma, but it can be detected early with ultraviolet (UV) imaging. We assessed the relationship between leukoderma and the frequency or total number of laser toning sessions, as well as the effectiveness of UV imaging for detecting leukoderma. MATERIALS AND METHODS: The subjects included 147 patients who received at least five laser toning sessions. Subjects were classified into three groups according to the frequency of treatment (weekly for Group A1, fortnightly for Group A2, and monthly for Group B), and the incidence of leukoderma was compared among the three groups. In patients who developed leukoderma, the interval between clinical diagnosis and leukoderma detection on UV images (obtained with a Visia Evolution during every laser toning session) was determined to evaluate the effectiveness of UV imaging for the early detection of leukoderma. RESULTS: The overall incidence of leukoderma was 2% (3/147 patients): 3.8% (1/26 patients) in Group A1, 4% (2/49 patients) in Group A2, and 0% (0/72 patients) in Group B. There were no significant differences in the incidence of leukoderma relative to the frequency of laser toning. In two of the three patients who developed leukoderma, it was diagnosed clinically at the 20th and 21st laser toning session, whereas it was diagnosed by UV imaging at the 12th and 13th session. In the remaining 1 patient, leukoderma was detected clinically and by UV imaging at the 7th session. CONCLUSIONS: There was no significant difference in the incidence of leukoderma related to the frequency of laser toning. This study showed that there are two types of leukoderma associated with laser toning. UV imaging was effective for the early detection of type 1 leukoderma, which seems to be related to the cumulative laser energy delivered, but not for detecting type 2 leukoderma, which may be due to direct phototoxicity.
Asunto(s)
Hipopigmentación/diagnóstico por imagen , Hipopigmentación/epidemiología , Terapia por Láser/efectos adversos , Terapia por Láser/métodos , Láseres de Estado Sólido/efectos adversos , Melanosis/radioterapia , Adulto , Diagnóstico Precoz , Femenino , Humanos , Hipopigmentación/patología , Incidencia , Melanosis/diagnóstico por imagen , Melanosis/patología , Persona de Mediana Edad , Estudios Retrospectivos , UltrasonografíaRESUMEN
Hypomelanosis of Ito (HI) is a rare neuroectodermal disorder often associated with mental retardation and epilepsy. We report on four new HI patients presenting with heterogeneous seizure manifestations and we review the literature concerning epileptic seizures in HI. At one extreme, there are patients with generalized seizures well controlled by drug treatment, whereas at the opposite there are patients with severe, often pharmacoresistant, focal seizures. The genetic substrate for HI syndrome is not homogenous and only partially understood. Further researches are required to shed light on the pathogenesis of HI phenotypes.