Naoki Oiso

Hermansky-Pudlak Syndrome

Oculocutaneous albinism is classified into non-syndromic oculocutaneous albinism (OCA) and syndromic OCA including Hermansky-Pudlak syndrome (HPS), Chediak-Higashi syndrome (CHS) and Griscelli syndrome (GS). Both non-syndromic and syndromic OCAs are autosomal recessive disorders. Human HPS is genetically divided into nine forms, HPS type 1 (HPS-1) to HPS-9. Human HPS can be sub-classified into four subgroups which are associated with protein complexes encoded by the causative genes. In this session, we summarize (1) the clinical features of HPS, (2) the mice and rat models of HPS, and (3) the molecular functions.

CYLD Cutaneous Syndrome: Familial Cylindromatosis, Brooke-Spiegler Syndrome and Multiple Familial Trichoepitherioma

© 2013 Oiso et al., licensee InTech. This is an open access chapter distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. CYLD Cutaneous Syndrome: Familial Cylindromatosis, Brooke-Spiegler Syndrome and Multiple Familial Trichoepitherioma

LEKTI: Netherton Syndrome and Atopic Dermatitis

In 1958, Netherton described the bamboo-like deformity in the fragile hairs in a girl with erythematous scaly dermatitis.[2] In 1985, Greene and Muller emphasized the triad of Netherton syndrome: ichthyosis, atopy, and trichorrhexis invaginata.[3] In 2000, Chavanas et al. identified eleven different mutations in SPINK5 in 13 families with Netherton syndrome.[4] Their finding disclosed a critical role of the serine protease inhibitor lymphoepithelial Kazal-type related inhibitor (LEKTI) in epidermal barrier function and immunity, suggesting a sequential pathway for high serum IgE levels and atopic manifestations.[4] In 2005, Descargues et al. found that LEKTI is a key regulator of epidermal protease activity and degradation of desmoglein 1 as the primary pathogenic event.[5] In 2010, Sales showed that a pathogenic matriptase-pro-kallikrein pathway could operate in a variety of physiological and pathological processes.[6] Thus, the study of Netherton syndrome contributes not only elucidation of pathogenesis of the disorder itself but also understanding of structure of the epidermis and immune and inflammatory processes including atopic dermatitis.

Dermoscopic assessment for a brushing treatment for a patient pelted with metal fragments in an industrial explosion

deposition. LPP has been described as pruritic, brownish-black macules of patches with no active border, with site predominance on sun-exposed areas and flexural folds. The patient’s eruptions were distributed symmetrically over the body, suggesting ashy dermatosis and not LPP. FDE induced by antiepileptics was also discussed. Because the eruptions had never recurred at the same sites, FDE and the recurrence of the brain tumor were ruled out. In addition, although the patient continued to take medications every day, acute new flares occurred spontaneously and randomly. Patch tests using these drugs on pigmented lesions were all negative. Moreover, neither eosinophilia nor eosinophilic infiltration to the eruption was noticed. These observations suggested that FDE was unlikely in this case, and therefore, we diagnosed the patient with ashy dermatosis. As mentioned before, “asymptomatic’’ blue-gray patch is a characteristic of ashy dermatosis. It usually begins with disseminated macules displaying an elevated red border. However, it is difficult to observe its active inflammatory phase, and the erythematous border is infrequently seen despite its classical description. In addition, the areas can also appear as blue-gray macules from the very beginning. Identification of the itching sensation and scaling is quite rare, and we were able to find only one report of ashy dermatosis with itching in the published work. Both the pruritus and scaling observed in our case demonstrated intense inflammatory reactions, which were supported by histological observations. Considering them, we believed that ashy dermatosis is a result of melanin deposition in the dermis induced by inflammation of unknown origin. It is supposed that many “asymptomatic’’ ashy dermatoses were the result of mild inflammations which may not have been detected as erythema. The reason why such relatively strong symptoms occurred in our patient remains unknown. Our case reminds us that ashy dermatosis has a wide range of inflammation phases, and that the pigmentation can be a result of inflammation.