Eruptive facial lentiginosis-like repigmentation in a patient with longstanding generalized vitiligo without a detectable trigger.

Spontaneous appearance of hyperpigmented macules on chronic vitiligo lesions is a very rare phenomenon, which is described as eruptive lentiginosis. We describe the case of a patient with chronic non-segmental generalized vitiligo who presented with a sudden onset of hyperpigmented macules on depigmented areas of the face. A biopsy showed pigmented basal keratinocytes in the interfollicular epidermis, and immunohisochemistry with anti-SOX10 antibodies showed nuclei of single melanocytes. This case shows that even long-standing depigmented vitiligo lesions may contain functional melanocytes or their precursors.

Síndrome LEOPARD: variante del síndrome de Noonan con lentiginosis / LEOPARD syndrome: A variant of Noonan syndrome with lentigines

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Speckled lentiginous nevus: A rare presentation associated with motor neuropathy and muscular atrophy in a child.

Speckled lentiginous nevus syndrome has been described in individuals with a speckled lentiginous nevus with rare associated neurologic deficits. Because speckled lentiginous nevus syndrome almost always affects adults, it is not typically considered when evaluating children. We present the first reported case of speckled lentiginous nevus syndrome presenting in a young child with muscle atrophy and motor deficits affecting muscles along the same distribution as the speckled lentiginous nevus.

Protection against summer solar lentigo over-pigmentation with a SPF30 daily cream.

BACKGROUND/PURPOSE: The aim of this study was to measure lentigines' pigmentation over a long period of time and evaluate if summer over-pigmentation can be avoided by the use a SPF30 day skin cream. METHODS: Seventeen healthy female volunteers aged 50 and over and presenting lentigines participated in the study from spring to summer. Throughout the study, all subjects applied a SPF30 daily skin cream to only one hand. Color measurements of the target lesions were performed with a chromameter and with a color-calibrated camera. Target lesions were also imaged with in vivo reflectance confocal microscopy (RCM). A specific procedure for re-registering the images was developed to ensure that the same papillae were measured over time. RESULTS: Both color measurement methods, chromametry and color-calibrated camera, showed that lentigines treated over time with the SPF30 day skin cream were significantly lighter than the non-treated lentigines. The RCM images showed a decrease in the papillary contrast for the treated lentigines. CONCLUSION: This study shows that this over-pigmentation can be avoided using a SPF30 day skin cream. Moreover, we have demonstrated that very fine re-registration of the RCM images is possible and ensures a more robust analysis.

Follicular porokeratosis: four new cases.

Porokeratosis, a disorder of keratinisation, is clinically characterized by the presence of annular plaques with a surrounding keratotic ridge. Clinical variants include linear, disseminated superficial actinic, verrucous/hypertrophic, disseminated eruptive, palmoplantar and porokeratosis of Mibelli (one or two typical plaques with atrophic centre and guttered keratotic rim). All of these subtypes share the histological feature of a cornoid lamella, characterized by a column of 'stacked' parakeratosis with focal absence of the granular layer, and dysmaturation (prematurely keratinised cells in the upper spinous layer). In recent years, a proposed new subtype, follicular porokeratosis (FP_, has been described, in which the cornoid lamella are exclusively located in the follicular ostia. We present four new cases that showed typical histological features of FP.

Familial gastrointestinal stromal tumors, lentigines, and café-au-lait macules associated with germline c-kit mutation treated with imatinib.

BACKGROUND: Familial lentiginosis syndromes are characterized by a wide array of manifestations resulting from activation of molecular pathways which control growth, proliferation, and differentiation of a broad range of tissues. Familial gastrointestinal stromal tumors (GISTs) are often accompanied by additional features like hyperpigmentation, mastocytosis, and dysphagia. They have been described with mutations in c-kit (most commonly), platelet-derived growth factor receptor A, neurofibromatosis-1, and succinate dehydrogenase genes. MATERIALS AND METHODS: We report on molecular characterization and tumor histopathology of two siblings in whom lentigines and café-au-lait macules were present along with multifocal GIST. Immuhistochemical analysis of CD34 and CD117 was performed on GIST biopsy samples from both siblings, while c-kit mutational analysis was done by PCR and direct sequencing on DNA from peripheral blood leukocytes of all family members and from paraffin-embedded gastric biopsy specimens of affected siblings. RESULTS: Histopathology revealed positive expression of CD117 and CD34. Mutational analysis showed the germline c.1676T>C mutation in c-kit exon 11, (p.(Val559Ala)), in the peripheral blood of both siblings and a second exon 11 mutation, c.1669T>A (p.(Trp557Arg)) in the tumor biopsy of one of them. Initiation of imatinib treatment resulted in striking resolution of their hyperpigmentation and a stable gastrointestinal disease in one of them. CONCLUSIONS: A c-kit mutational test in familial GISTs is indicated before initiation of imatinib therapy, as it can help predict tumor response to treatment.

Partial unilateral lentiginosis is mosaic neurofibromatosis type 1 or not?

Partial unilateral lentiginosis (PUL) is a rare pigmentation disorder characterized by numerous lentigines with sharp margins in the midline in one or more dermatomes. Its segmental pattern suggests that this presentation accompanied by café-au-lait spots, Lisch nodule or neurofibromas has a close relationship with mosaic neurofibromatosis type 1 or segmental neurofibromatosis (NF) in particular. In a group of 16 patients with PUL, who presented at the dermatology outpatient clinic between 1998 and 2015, an examination was made of consanguineous marriage in the family history, the presence of a similar lesion or NF in first-degree relatives, neurofibroma in the physical examination, the involvement pattern, axillary/inguinal freckling and the presence and number of café-au-lait spots. The ophthalmological examination investigated Lisch nodule and optic glioma. The skeletal system was examined for NF involvement. Of 16 patients, 13 (81.2%) were female and three (18.8%) were male with a mean age of 31.19 years (range, 15-48). There was no family history of PUL in any case. Consanguineous marriage was absent in 15 patients (93.8%). While there were accompanying café-au-lait spots in three patients (18.8%). Lisch nodule was an accompanying finding in three patients (18.8%). Axillary freckling was detected in four (25%) patients. Neurofibroma was found in only one patient. Although café-au-lait spots, axillary freckling, neurofibroma and Lisch nodule were present in a small number of the patients, the presence of the findings may be considered to be specific to NF suggests that PUL is a variant of mosaic NF-1. Genetic studies will help to further elucidate this subject.

La microscopía confocal de reflectancia en el lentigo maligno / Reflectance confocal microscopy in lentigo maligna

El lentigo maligno es el melanoma más frecuente en la cara. El diagnóstico del lentigo maligno es complicado porque los signos clínicos y dermatoscópicos asociados a lentigo maligno pueden verse en otras lesiones cutáneas faciales. La microscopia confocal de reflectancia es una técnica de imagen que permite detectar hallazgos característicos del lentigo maligno. En la epidermis encontramos la pérdida del patrón en panal de abejas y células pagetoides con tendencia al foliculotropismo. Estas células pagetoides suelen ser de morfología dendrítica, aunque también pueden presentarse como células redondas mayores de 20μm con núcleos atípicos. En la unión dermoepidérmica las papilas dérmicas pueden estar mal delimitadas y haber células atípicas. Estas células pueden formar puentes que parecen estructuras mitocondriales. Además, podemos ver engrosamientos junturales con células atípicas localizados alrededor de los folículos simulando una cabeza de medusa. La microscopia confocal de reflectancia es muy útil en el diagnóstico del lentigo maligno

Lentigo maligna is the most common type of facial melanoma. Diagnosis is complicated, however, as it shares clinical and dermoscopic characteristics with other cutaneous lesions of the face. Reflectance confocal microscopy is an imaging technique that permits the visualization of characteristic features of lentigo maligna. These include a disrupted honeycomb pattern and pagetoid cells with a tendency to show folliculotropism. These cells typically have a dendritic morphology, although they may also appear as round cells measuring over 20μm with atypical nuclei. Poorly defined dermal papillae and atypical cells may be seen at the dermal-epidermal junction and can form bridges resembling mitochondrial structures. Other characteristic findings include junctional swelling with atypical cells located around the follicles, resembling caput medusae. Reflectance confocal microscopy is a very useful tool for diagnosing lentigo maligna

Multiple lentigines confined to psoriatic plaques induced by biologic agents in psoriasis therapy: a case and review of the literature.

Multiple lentigines confined to psoriatic plaques is a rare entity, which is more frequently recognized after the use of systemic biologic agents for psoriasis therapy. Although this phenomenon was previously accepted as a postinflammatory reaction, recent observations suggest psoriasis-related cytokines and their efficient supression by biologic agents strongly associate with melanogenesis and melanocytic proliferation. Hereby, we report a patient who developed multiple lentigines arising in resolved psoriatic plaques induced by infliximab and review similar cases reported in the literature induced after biologic treatments of psoriasis.

Síndrome LEOPARD: una variante del síndrome de Noonan con fuerte asociación a miocardiopatía hipertrófica / LEOPARD syndrome: a variant of noonan syndrome strongly associated with hypertrophic cardiomyopathy

Introducción y objetivos. El síndrome LEOPARD es una enfermedad autosómica dominante relacionada con el síndrome de Noonan, aunque menos conocida. El objetivo del presente estudio es describir las características clínicas y moleculares de una serie amplia de pacientes con síndrome LEOPARD. Métodos. Se obtuvieron datos clínicos de 19 pacientes procedentes de 10 hospitales. Se estudiaron los genes PTPN11, RAF1 y BRAF mediante secuenciación bidireccional de los exones más recurrentes. Resultados. Tras las dismorfias faciales, la principal característica descrita es la cardiopatía congénita (88%). La más frecuente es la miocardiopatía hipertrófica (71%), por delante de la estenosis pulmonar (35%). Se describió lentiginosis múltiple o manchas café con leche en un 84% y sordera en 3 pacientes; 16 pacientes (84%) portaban mutación en PTPN11 (en 10 de ellos, la mutación recurrente en el síndrome LEOPARD, p.Thr468Met) (NP_002825.3). En otros 2 pacientes se identificó mutación en RAF1 y 1 solo en BRAF. En comparación con otros síndromes neurocardiofaciocutáneos, los pacientes con LEOPARD tienen mayor prevalencia de miocardiopatía hipertrófica y lesiones cutáneas y menor prevalencia de estenosis pulmonar y talla baja. Conclusiones. El síndrome LEOPARD presenta algunas características distintivas además de la lentiginosis múltiple, como son la mayor frecuencia de miocardiopatia hipertrófica y menor prevalencia de talla baja. Dadas las potenciales implicaciones clínicas de la miocardiopatía hipertrófica, se debe buscar activamente en los pacientes del espectro clínico del síndrome de Noonan, y muy especialmente en aquellos con síndrome LEOPARD (AU)

Introduction and objectives. LEOPARD syndrome is an autosomal dominant condition related to Noonan syndrome, although it occurs less frequently. The aim of this study was to characterize the clinical and molecular features of a large series of LEOPARD syndrome patients. Methods. We collected clinical data from 19 patients in 10 hospitals. Bidirectional sequencing analysis of PTPN11, RAF1, and BRAF focused on exons carrying recurrent mutations. Results. After facial dysmorphism, structural heart defects (88%) were the most common feature described. Hypertrophic cardiomyopathy (71%) was diagnosed more often than pulmonary valve stenosis (35%). Multiple lentigines or café au lait spots were found in 84% of the series, and deafness was diagnosed in 3 patients. Mutations in PTPN11 were identified in 16 (84%) patients (10 patients had the recurrent LEOPARD syndrome mutation, p.Thr468Met) (NP_002825.3T468M). Two other patients had a mutation in RAF, and 1 patient had a mutation in BRAF. When compared with other neurocardiofaciocutaneous syndromes, LEOPARD syndrome patients showed a higher prevalence of hypertrophic cardiomyopathy and cutaneous abnormalities, and a lower prevalence of pulmonary valve stenosis and short stature. Conclusions. LEOPARD syndrome patients display distinctive features apart from multiple lentigines, such as a higher prevalence of hypertrophic cardiomyopathy and lower prevalence of short stature. Given its clinical implications, active search for hypertrophic cardiomyopathy is warranted in Noonan syndrome spectrum patients, especially in LEOPARD syndrome patients (AU)