Del Mar María, González Meléndez, Sayed Christopher, Phadke Pushkar
Ms. Meléndez González is with the Universidad Central del Caribe School of Medicine in Bayamon, Puerto Rico.
Dr. Sayed is with the Department of Dermatology at the University of North Carolina School of Medicine in Chapel Hill, North Carolina.
J Clin Aesthet Dermatol. 2020 Dec;13(12):38-40. Epub 2020 Dec 1.
Galli-Galli disease (GGD) is a rare genodermatosis that is distinguished from Dowling-Degos disease (DDD) by the histologic finding of acantholysis. We present a case of a female patient with pruritic intertriginous plaques and history of hidradenitis suppurativa (HS). While reports exist associating DDD with HS, to our knowledge, GGD in association with HS has not been reported in recent literature. HS in association with DDD has been found to have causal mutations, involving the gamma-secretase complex and POFUT1 genes. DDD also has shared causal mutations with GGD in the POGLUT1 and KRT5 genes. These three skin diseases have been linked to different gene mutations, which are all associated with the Notch signaling pathway.
加里-加里病(GGD)是一种罕见的遗传性皮肤病,通过棘层松解的组织学表现与道林-迪戈斯病(DDD)相鉴别。我们报告一例患有瘙痒性间擦疹斑块且有化脓性汗腺炎(HS)病史的女性患者。虽然有报道将DDD与HS相关联,但据我们所知,近期文献中尚未报道GGD与HS相关。已发现与DDD相关的HS存在因果突变,涉及γ-分泌酶复合物和POFUT1基因。DDD在POGLUT1和KRT5基因中也与GGD有共同的因果突变。这三种皮肤病与不同的基因突变有关,这些突变均与Notch信号通路相关。