[Common nail diseases in children and adolescents : Recognize, advise, treat]. / Häufige Nagelerkrankungen im Kindes- und Jugendalter : Erkennen, Beraten, Behandeln.

There are a number of nail diseases that primarily occur in children and adolescents. Many of these nail changes are physiologic and are only transient. Thus, they do not need any therapy. Infectious nail diseases or nail involvement in chronic inflammatory dermatoses can be found in both children and adults, and may require specific treatment. Nail pigmentation such as longitudinal melanonychia occur significantly less frequently in children than in adult patients, and have different causes and a better prognosis. Knowledge about these child-specific peculiarities of nail diseases is necessary in order to provide the best possible advice to parents and to offer appropriate treatment. This article focuses on the most common and important nail diseases in children and adolescents and their treatment.

OPTIC DISK COLOBOMA AND CONTRALATERAL OPTIC DISK PIT MACULOPATHY TREATED BY VITRECTOMY IN A PATIENT WITH NOONAN SYNDROME WITH MULTIPLE LENTIGINES.

PURPOSE: To report a case of Noonan syndrome with multiple lentigines with unusual ocular features. METHODS: The authors describe a case of a 7-year-old girl with Noonan syndrome with multiple lentigines and anomalous optic disks. RESULTS: A 7-year-old girl with genetically proven Noonan syndrome with multiple lentigines ( PTPN11 gene mutation) and anomalous optic disks was referred for treatment of persistent macular detachment after 1 year of conservative follow-up. The right eye demonstrated an optic disk coloboma with the best-corrected visual acuity of 20/32, the left eye demonstrated an optic disk pit with serous macular detachment (best-corrected visual acuity 20/50-20/80). Optical coherence tomography demonstrated a neurosensory detachment. Twenty-five gauge pars plana vitrectomy was performed with posterior hyaloid detachment, drainage over disk pit area, and SF6 20% gas tamponade. Surgery resulted in subretinal fluid reduction and improvement of the visual acuity to 20/32. CONCLUSION: A case of Noonan syndrome with multiple lentigines with optic disk coloboma in the right eye and optic disk pit with related maculopathy in the left eye. To the best of the authors' knowledge, this is the first reported case describing the association of Noonan syndrome with multiple lentigines and congenital optic disk anomalies. Optic disk pit maculopathy was managed surgically because of its longstanding nature with the deteriorating visual acuity.

Cross-syndrome: myasthenia gravis and the demyelinating diseases of the central nervous system combination. Systematic literature review and case reports.

Nowadays the problem of comorbidity is still relevant. In this review, we describe clinical cases of the disease of the neuromuscular junction (myasthenia gravis (MG) generalized form) and the demyelinating disease of the central nervous system (DD CNS) (multiple sclerosis, neuromyelitis optica spectrum disorder (NMOSD), etc.) combinations registered in our practice with precise pathogenetic analysis. Although the number of the described associations is growing every year, the exact development mechanisms of this cross syndrome as well as the nature of the association between the discussed autoimmune diseases remain unknown. At the beginning of both disorders there is a considerable loss of auto tolerance of the immune system and, as a result, an increased response from autoreactive T-lymphocytes to the structures of the nervous system: brain cells and neuromuscular synapses. There are three main theories for comorbidity: initial predisposition, direct case relationship with disease-modifying therapy (DMT) application, and coincidence. It is known that early diagnostics of MG and timely administration of necessary adequate treatment reduce the risk of process generalization and lead to a decline in mortality. Therefore, the offer to examine MS patients with atypical symptoms for possible MG identification seems very rational. Similarly, MG patients having uncharacteristic symptoms that can be indicative of other autoimmune nervous system diseases also demand special diagnostics. Considering the presence of similar pathogenetic links, several authors propose a possibility of a new nosological unit establishment, including described comorbidity.

Terminal osseous dysplasia with pigmentary defects and cardiomyopathy caused by a novel FLNA variant.

Terminal osseous dysplasia with pigmentary defects (TODPD), also known as digitocutaneous dysplasia, is one of the X-linked filaminopathies caused by a variety of FLNA-variants. TODPD is characterized by skeletal defects, skin fibromata and dysmorphic facial features. So far, only a single recurrent variant (c.5217G>A;p.Val1724_Thr1739del) in FLNA has found to be responsible for TODPD. We identified a novel c.5217+5G>C variant in FLNA in a female proband with skeletal defects, skin fibromata, interstitial lung disease, epilepsy, and restrictive cardiomyopathy. This variant causes mis-splicing of exon 31 predicting the production of a FLNA-protein with an in-frame-deletion of 16 residues identical to the miss-splicing-effect of the recurrent TODPD c.5217G>A variant. This mis-spliced transcript was explicitly detected in heart tissue, but was absent from blood, skin, and lung. X-inactivation analyses showed extreme skewing with almost complete inactivation of the mutated allele (>90%) in these tissues, except for heart. The mother of the proband, who also has fibromata and skeletal abnormalities, is also carrier of the FLNA-variant and was diagnosed with noncompaction cardiomyopathy after cardiac screening. No other relevant variants in cardiomyopathy-related genes were found. Here we describe a novel variant in FLNA (c.5217+5G>C) as the second pathogenic variant responsible for TODPD. Cardiomyopathy has not been described as a phenotypic feature of TODPD before.

Co-occurrence of Aicardi-Goutières syndrome type 6 and dyschromatosis symmetrica hereditaria due to compound heterozygous pathogenic variants in ADAR1: a case series from India.

Aicardi-Goutières syndrome type 6 (AGS6) and dyschromatosis symmetrica hereditaria (DSH) are allelic disorders caused respectively by biallelic and heterozygous pathogenic variants in ADAR1. We report three unrelated children presenting with features of both AGS6 and DSH, two of whom had compound heterozygous pathogenic variants in ADAR1. We also describe the novel genetic variants in our cases and review the literature on association of ADAR1-related AGS6 and DSH with these phenotypes.

LONG-TERM OBSERVATION OF MULTIFOCAL METASTATIC INTRAOCULAR CARCINOID WITH ACQUIRED IRIS HETEROCHROMIA.

BACKGROUND/PURPOSE: To report a unique case of a pulmonary carcinoid tumor unilaterally metastatic to the iris and ciliary body and bilaterally to the choroid that was conservatively followed. METHODS: A 46-year-old woman presented with bilateral choroidal lesions and a left iris tumor. Ultrasound biomicroscopy disclosed a ciliary body component. A diagnosis of metastatic carcinoid tumor was made based on the clinical features. Rather than an excision, photodynamic therapy, or radiation treatment, as has been reported in all previous cases of carcinoid tumor metastatic to the iris, the patient was observed. RESULTS: Excellent vision was maintained for 8 years. The iris tumor gradually enlarged, but the choroidal lesions remained unchanged. The iris with the carcinoid tumor gradually acquired a brown pigmentation; this is the first reported case of acquired iris heterochromia in the setting of carcinoid tumor. CONCLUSION: We conclude, in cases of metastatic carcinoid in which visual acuity is excellent and the patient is asymptomatic, that observation of the ocular lesions is an acceptable course of action. The iris heterochromia is believed to have been caused by secretory factors produced by the tumor.

[Yellowish psoriasis revealing dermal lipomatous metaplasia]. / Lésions jaunâtres de psoriasis révélant une métaplasie lipomateuse dermique.

INTRODUCTION: Dermal lipomatous metaplasia is a particular histological presentation characterized by the presence of mature fat cells in the dermis. It is found in the tissue stroma of certain skin tumours and in a single reported case of psoriasis, imparting an orange-yellow tint. Herein we report a second case of this type. PATIENTS AND METHODS: An 82-year-old woman was consulting for an extensive, rapidly spreading psoriasis flare-up that had appeared 3 months earlier. Her psoriasis had been present for 30 years and had rarely been treated. The clinical examination revealed orange-yellow patches, either alone or mixed with psoriasis plaques. The laboratory lipid balance was without abnormalities. Protein electrophoresis revealed chronic inflammation. Histopathology and immunohistochemistry findings supported the diagnosis of dermal lipomatous metaplasia. Acitretin 20mg/day produced marked improvement in the rash within one month. CONCLUSION: Dermal lipomatous metaplasia is a highly specific and rare entity that should be considered where orange-yellow lesions are seen.

A Rare Case of Foveal Hypoplasia With Dyschromatosis Universalis.

Foveal hypopalsia (FH) is typically seen in association with diseases like albinism and aniridia, and familial FH (FFH) is very rare. The authors present a case of unique association of FH with dyschromatosis universalis hereditaria (DUH). Family members of this patient had history of nystagmus and dermal pigmentary anomalies, suggesting that this may represent FFH with DUH in X-linked pattern. The authors also discuss the role of pigment anomalies in manifesting as this combination. [Ophthalmic Surg Lasers Imaging Retina. 2019;50:192-195.].

Incontinencia pigmenti y manifestaciones neurológicas / Incontinentia pigmenti and neurological manifestations

Introducción: la incontinencia pigmenti es una genodermatosis rara ligada al cromosoma X, afecta al sexo femenino y tiene diferentes expresiones clínicas en una misma familia. Presentación del caso: preescolar de 20 meses de edad, con antecedente familiar de incontinencia pigmenti, que presentó lesiones típicas en la piel desde la primera semana de vida, de aspectos lineales, vesículo-costro-ampollosas, verrucosas, y luego hiperpigmentadas, en diferentes fases y múltiples brotes. Comienza desde el primer mes de vida con crisis epilépticas que evoluciona a una encefalopatía de West, con buena respuesta a la vigabatrina y control de los espasmos infantiles. Conclusiones: la incontinencia pigmenti se caracteriza por afectar, de forma variable, a los tejidos derivados del neuroectodermo, la piel y otras faneras, ojos y el sistema nervioso central, provoca daño multisistémico. Las lesiones de la piel son las más significativas desde el nacimiento, y la biopsia de piel confirma el diagnóstico(AU)

Introduction: incontinentia pigmenti is a rare genodermatosis linked to the X chromosome. It affects the female sex and has different clinical manifestations in the same family. Case presentation: a 20-month-old infant with a family history of incontinentia pigmenti, who from the first week of life presented typical lesions on the skin of linear, vesicular-crust-bullous, warty, and then hyperpigmented aspects, in different phases and multiple outbreaks. From the first month of life, the patient presented epileptic seizures that evolved to West encephalopathy, with good response to vigabatrin and control of infantile spasms. Conclusions: incontinentia pigmenti is characterized by affecting, in a variable way, the tissues derived from the neuroectoderm, the skin and other skin´s structures, the eyes and the central nervous system causing multisystem damage. Skin lesions are the most significant since birth, and skin biopsy confirms the diagnosis(AU)

Diseases of the lips.

Heath care providers should be comfortable with normal as well as pathologic findings in the lips, because the lips are highly visible and may display clinical manifestations of local, as well as systemic inflammatory, allergic, irritant, and neoplastic alterations. Fortunately, the lips are easily accessible. The evaluation should include a careful history and physical examination, including visual inspection, as well as palpation of the lips and an examination of associated cervical, submandibular, and submental nodes. Pathologic and microscopic studies, as well as a review of medications, allergies, and habits, may further highlight possible etiologies. Many lip conditions, including premalignant changes, are relatively easy to treat, when the abnormalities are detected early; however, advanced disease and malignancies are challenging for both the patient and clinician. Treatment should be focused on eliminating potential irritants or allergens and treatment of the primary dermatosis. In this paper we review physiologic variants as well as pathologic conditions of the lips.

Acrally distributed dermatoses: Vascular dermatoses (purpura and vasculitis).

Purpuric lesions appear in acral distribution in a variety of conditions and often provide clues to the clinical diagnosis. Purpuric means "hemorrhagic"-that is, the lesions do not blanch from pressure. This review focuses on dermatoses that produce hemorrhagic lesions in acral distribution from the large groups of the vasculitic diseases and their mimics. Cutaneous small vessel vasculitis is confined to the skin, involves mainly postcapillary venules, and has the hallmark manifestation of palpable purpura. Henoch-Schönlein purpura is an immune complex-mediated systemic vasculitis of the small vessels with manifestations from the skin, joints, kidneys, and gastrointestinal system. Only cases where the immune complexes contain immunoglobulin A type are classified as Henoch-Schönlein purpura. Cryoglobulinemic vasculitis is induced by the deposition of cold-precipitated immune complexes in the small vessels. Urticarial vasculitis comprises a spectrum of conditions with the characteristic course of chronic urticaria, with wheals that persist longer than 24 hours, leave hyperpigmentation, and have leukocytoclastic vasculitis on histologic examination. Polyarteritis nodosa is a rare multisystem, segmental necrotizing vasculitis of mainly the medium-sized vessels. Pigmented purpuric dermatoses are chronic benign dermatoses characterized by petechiae, purpura, and increased skin pigmentation. The hallmark of pigmented purpuric dermatoses is their orange-brown, speckled, cayenne pepper-like discoloration.

Alopecia areata incognita in Cronkhite-Canada syndrome.

Cronkhite-Canada syndrome is an acquired inflammatory polyposis syndrome in which alopecia, onychomadesis and hyperpigmentation occur concurrently with gastrointestinal symptoms. The pathophysiology of alopecia in Cronkhite-Canada syndrome has not been definitively elucidated. We present evidence for alopecia areata incognita as a possible mechanism of hair loss.