Xeroderma Pigmentosum

Montgomery, Hamilton

doi:10.1001/archderm.1932.01450030253004

Cited by 31 publications

(3 citation statements)

References 9 publications

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“…One of our patients who had features of both DDD and KAR suggested to us the possibility that these two conditions might be variants of one disease , Although the sites of pigmentation are different, DDD being localized mainly to the flexures and KAR to the extensor surfaces of the hands and feet, the histology is very similar. KAR lacks only the antler-like pattern of the epithelial proliferation which, incidentally, is not a constant feature even in DDD, The five cases described by Becker & Reuter (1939) as familial pigmentary anomaly and the case of Montgomery & Reuter (1932) of xeroderma pigmentosum, later repudiated as such (Becker & Reuter, 1939), were probably genuine cases of this DDD-KAR association. Both of them had reticulate pigmentation of the neck and forearms with a histopathology which was strikingly similar to KAR.…”

Section: Discussionmentioning

confidence: 95%

The Spectrum of Dowling-Degos Disease

Rebora

Crovato

2006

British Journal of Dermatology

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Section: Discussionmentioning

confidence: 95%

The Spectrum of Dowling-Degos Disease

Rebora

Crovato

2006

British Journal of Dermatology

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“…Выраженность гиперкератоза и пигментации усиливается в стадии гиперпигментации и атрофии кожи. По мере прогрессирования заболевания отмечается атрофия эпидермиса в одних участках и утолщение в других, нарушение стратификации кератиноцитов, гиперхромазия ядер, появление элементов с признаками цитологической атипии -гистологическая картина напоминает актинический кератоз [26]. В дерме визуализируются дистрофические изменения, сходные с таковыми при актиническом дерматите, характеризующиеся базофилией коллагеновых волокон и солярным эластозом.…”

Section: гистологическая картинаunclassified

Xeroderma Pigmentosum: Clinical and Genetic Features and Therapeutic Approaches

Belysheva¹,

Наседкина

Kletskaya

et al. 2021

Vopr. sovr. pediatr.

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Xeroderma pigmentosum is rare genetic disorder characterized by increased skin sensitivity to damaging ultraviolet (UV) light. First symptoms manifest at early age in most cases (up to 75%). Chronic damage due to sun exposure is common, it has different stages of changes and risk of further development of malignant tumors that depends on the gene involved. Additionally to skin manifestations there are various neurological disorders such as progressive cognitive dysfunctions, sensorineural hearing loss, ataxia, pyramid and extrapyramidal disorders, areflexia. Treatment of patients with xeroderma pigmentosum is mostly symptomatic and preventive (protection against UV). Nowadays targeted medications for DNA repair and increasing cells resistance to UV light, thus preventing the oncological diseases, are under development.

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“…Die lokale und systemische Anwendung von Retinoiden führte nicht zum gewünschten Erfolg [25,44,45]. Klinische Überlappungsformen, wie auch bei der hier vorgestellten Patientin, die neben den klinischen Merkmalen eines Morbus Dowling-Degos zusätzlich die für den Morbus Kitamura typische Hyperpigmentierung der Handrücken aufweist, sind in der Literatur mehrfach beschrieben worden und lassen sich in dieses Spektrum leicht einfügen [3, 5, 6, 9-12, 16,18,31,32,43,46,49]. Die Pigmentatio reticularis faciei et colli mit epithelialer Zystomatose und die familiär auftretenden multiplen follikulären Harmartome bilden mit den stark ausgeprägten follikulären und zystischen Läsionen das andere Ende des Spektrums (Tabelle 1).…”

Section: Literaturunclassified

Umschriebene retikuläre Hyperpigmentierungen - ein weites klinisches Spektrum

1999

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34 year-old pregnant woman presented with reticulate pigmentation of the flexures, the dorsum of the hands and the genitoperianal region. She was in good health and her family history was unremarkable. Histologic examination of the hyperpigmented patches revealed pigmented filiform downgrowths of the interfollicular epidermis and follicular infundibula, as well as small epithelial cysts. Upon immunohistochemical and ultrastructural studies, the number of melanocytes appeared normal. The elongated dendritic processes of the melanocytes contained many mature melanosomes. In the adjacent keratinocytes large melanosomes did not aggregate into complexes. The diagnosis of localized reticulate pigmentary disorder was established. The knowledge of the broad clinical spectrum of localized reticulate hyperpigmentations with its favorable prognosis is of practical importance. Genital or flexural pigmented lesions have to be differentiated from melanosis of the vulva or acanthosis nigricans. The presented case gives further evidence that many of the proposed entities characterized clinically by reticulate pigmented macules and hyperkeratotic follicular lesions are different phenotypic expressions of the same autosomal dominant genodermatosis.

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Xeroderma Pigmentosum

Cited by 31 publications

References 9 publications

The Spectrum of Dowling-Degos Disease

The Spectrum of Dowling-Degos Disease

Xeroderma Pigmentosum: Clinical and Genetic Features and Therapeutic Approaches

Umschriebene retikuläre Hyperpigmentierungen - ein weites klinisches Spektrum

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