Incontinentia pigmenti: genodermatosis multisistémica / Incontinentia pigmenti: multisistemic genodermatosis

Resumen La incontinentia pigmenti es una genodermatosis ligada al cromosoma X, generalmente letal en los hombres. Está causada por una mutación con pérdida de función en el gen IKBKG (inhibitor of kappa polypeptide gene enhancer in B cells kinase gamma), que impide que la proteína NFкβ (nuclear factor kappa-light-chain-enhancer of activated B cells) migre al núcleo y comience la transcripción de factores que amplifican la respuesta inmunitaria y previenen la apoptosis. Por tanto, las células mutantes se vuelven vulnerables a la apoptosis cuando son expuestas a citocinas y provocan vaso-oclusión e isquemia de tejidos como la piel, el sistema nervioso central y la retina. Las lesiones dermatológicas son características; se distribuyen a lo largo de las líneas de Blaschko, las cuales siguen el patrón de migración de las células de la piel en la embriogénesis, y ocurren en el 100% de los pacientes. Las manifestaciones cutáneas aparecen en una secuencia de cuatro fases que inicia desde el nacimiento: vesicular, verrucosa, hiperpigmentada e hipopigmentada. Estas lesiones son relevantes, puesto que orientan al clínico hacia el diagnóstico. Además, se acompañan de anomalías neurológicas, como crisis convulsivas, y múltiples manifestaciones oftalmológicas, como el desprendimiento de la retina. Los pacientes con incontinentia pigmenti, pero sin compromiso oftalmológico o neurológico clínicamente significativo, tienen un pronóstico bueno y una esperanza de vida normal. Las anomalías que se presentan son permanentes, lo que puede generar preocupación en los pacientes.

Abstract Incontinentia pigmenti is an X-linked genodermatosis generally lethal in males; thus, it presents almost exclusively in females. It is caused by a loss-of-function mutation in the IKBKG (inhibitor of kappa polypeptide gene enhancer in B cells, kinase gamma) gene that prevents the NFкβ (nuclear factor kappa-light-chain-enhancer of activated B cells) protein from migrating to the nucleus to begin the transcription of factors that amplify the immune response and prevent apoptosis. Consequently, mutant cells become vulnerable to apoptosis when exposed to cytokines and, in turn, lead to vaso-occlusion and ischemia of tissues, such as the skin, the central nervous system and the retina. Dermatological lesions are characteristic and occur in 100% of patients; they are distributed along Blaschko lines, which follow the pattern of migration of skin cells in embryogenesis. The cutaneous manifestations follow a sequence of four phases since birth: vesicular, verrucous, hyperpigmented and hypopigmented. These lesions are relevant for the disease because they guide the clinician towards the diagnosis. Additionally, they are accompanied by neurological abnormalities, such as seizures, and multiple ophthalmological manifestations, such as retinal detachment. Incontinentia pigmenti patients with no clinically significant ophthalmic or neurological compromise have a good prognosis and a normal life expectancy. The abnormalities present are permanent, which can be a cause of concern for the patients.

Skin complexion and pigmentary disorders in facial skin of 1204 women in 4 Indian cities.

Background: The color of Indian skin shows great diversity and pigmentary disorders are a major concern of Indian women. Despite great variations in climate, diet, and social parameters within India, studies of the range of skin types have been rather scarce. Aims: This study was aimed at characterizing the color of Indian skin in various geographical locations, its characteristics in terms of overall skin complexion and pigmentary disorders, and the impact of age on these features. Methods: An extensive descriptive study, including skin color parameters (objective measurements and evaluations by dermatologists, clinically or from photographs) was carried out involving 1,204 female volunteers of different ages living in four different Indian cities. Results: Important differences in skin complexion according to the geographical location were observed. Age seemed to have little impact on complexion. Hyperpigmented spots were frequent and were noted at early stages and many lentigines were found. Melasma affected about 30% of middle-aged women, but many other ill defined, pigmented macules were also observed. Additionally, we found pigmented lip corners associated with marionette lines, and linear nasal pigmentation. Conclusions: Indian skin color is diverse and pigmentary disorders are common. Skin complexion is not greatly affected by age. Some hyperpigmented disorders occur at early stages and increase with age, contributing to overall unevenness of facial color.

Follicular Dowling Degos disease: A rare variant of an evolving dermatosis.

Dowling Degos disease is a rare, reticulate pigmentary disorder with variable phenotypic expression that manifests as hyperpigmented macules and reticulate pigmentary anomaly of the fl exures. Many variants of this condition and its overlap with other reticulate pigmentary disorders have been reported in the literature. We present here two cases of DDD with follicular localization, both clinically and histologically. It was associated with ichthyosis vulgaris in one case. Follicular DDD is an uncommon variant of this evolving dermatosis. Our report supports the possible role for disordered follicular keratinisation in its pathogenesis.

Clinicopathological correlation of acquired hyperpigmentary disorders.

Acquired pigmentary disorders are group of heterogenous entities that share single, most significant, clinical feature, that is, dyspigmentation. Asians and Indians, in particular, are mostly affected. Although the classic morphologies and common treatment options of these conditions have been reviewed in the global dermatology literature, the value of histpathological evaluation has not been thoroughly explored. The importance of accurate diagnosis is emphasized here as the underlying diseases have varying etiologies that need to be addressed in order to effectively treat the dyspigmentation. In this review, we describe and discuss the utility of histology in the diagnostic work of hyperpigmentary disorders, and how, in many cases, it can lead to targeted and more effective therapy. We focus on the most common acquired pigmentary disorders seen in Indian patients as well as a few uncommon diseases with distinctive histological traits. Facial melanoses, including mimickers of melasma, are thoroughly explored. These diseases include lichen planus pigmentosus, discoid lupus erythematosus, drug-induced melanoses, hyperpigmentation due to exogenous substances, acanthosis nigricans, and macular amyloidosis.

Reticulate pigmentary disorders.

Reticulate pigmentary disorders is a term that is loosely defined to include a spectrum of acquired and congenital conditions with different morphologies. The presentations vary from the reticular or net like pattern to the" freckle like" hyper and hypopigmented macules that are usually restricted to the true genetic "reticulate" pigmentary disorders. There is little clarity on this topic and related terms, in major dermatology textbooks. Hence, to harmonize the different entities we feel that the term "mottled pigmentation" could be used to include reticulate pigmentary disorders (acquired and congenital), dyschromasias and the disorders with a reticular pattern. The genetic reticulate pigmentary disorders can also be classified according to the gene loci which in the majority of cases are localized to keratin 5/14. A more useful clinical method of classification is based on the regional distribution, which includes facial, truncal, acral or flexural types. In this review we will largely focus on the inherited reticulate pigmentary disorders.

TCA chemical peeling / 대한피부과학회지

Tricholroacetic acid (TCA) chemical peeling is an effective, versatle and safe therapeutic method for patients with pigmentary disorders, acne scars and aging skin. With an experienced and skilled operator, the associated complications are rare and tend to be mild. No. ystemic toxicity is known to be induced by TCA. We observed the effect of TCA chemical peeling, evaluated by 242 patients themselves with melasma, freckles, senile lentgines, pigmented nevi, seborrheic keratosis, skin tags or acne scars. The patients evaluated TCA peeling as excellent for the treatment of seboirheic keratosis, pigmented nevi, skin tags and acne scars, and as selectively recommendable for the treatment of melasma, freckles and senile lentigines.

Waardenburg's Syndrome in Son and Mother / 대한피부과학회지

We report a case of Waardenburgs syndrome in 18-year-old male patient who has total deafness of the right ear, heterochromia irides, hypopigmented patches on the face and trunk, and disseminated lentigines on the entire body surface since birth. His 51-year-old mother also has total deafness, heterochromia irides, white foreloek, and disseminated lentigines on the entire body surface. The patient with this disorder may complain of pigmentary abnormalities, and we believe dermatologists should pay more attention to systemic signs of the congenital pigmentary disorders.