Steatocystoma multiplex and leuconychia in a child with Alagille syndrome

Abstract

Alagille syndrome is a rare autosomal dominant developmental disorder, characterized by congenital paucity of interlobular bile ducts, peculiar facies, posterior embryotoxon, bone abnormalities, and peripheral pulmonary artery stenosis. Cutaneous involvement in this disorder is quite rare and the association of Alagille syndrome with multiple comedones and cysts has been described only once. Here, we report the clinical and histological findings of a 7-year-old patient affected by Alagille syndrome who presented multiple cystic lesions and comedones reminiscent of steatocystoma multiplex and a congenital total true leuconychia. Although unexplained, the association of this syndrome with a developmental disorder of the pilosebaceous unit may not be fortuitous.

Pulmonary artery pathologies in Alagille syndrome: a meta-analysis

“…The recruited articles included retrospective studies ( n = 20) [ 5 , 10 , 13 , 15 – 17 , 20 – 23 , 25 , 26 , 28 , 30 , 32 , 36 , 37 , 39 , 41 , 42 ], case reports ( n = 13) [ 3 , 4 , 8 , 9 , 12 , 14 , 18 , 24 , 27 , 29 , 31 , 33 , 35 ], case series ( n = 2) [ 11 , 34 ], medical imaging ( n = 1) [ 19 ], pilot projects ( n = 1) [ 40 ], and a letter to the editor ( n = 1) [ 38 ]. A forest plot is shown in Figure 2 .…”

A recurrent mutation in theKRT17gene responsible for severe steatocystoma multiplex in a large Chinese family

“…The lesions usually start to develop in adolescence or early adult life . These nodules may present as an isolated feature, and can also be found in conditions such as pachyonychia congenita type II, LEOPARD syndrome and Alagille syndrome . SM results from a mutation of the keratin 17 gene ( KRT17 ; OMIM 148069) within the type I keratin cluster on chromosome 17q21.2 .…”

“…1 These nodules may present as an isolated feature, and can also be found in conditions such as pachyonychia congenita type II, LEOPARD syndrome and Alagille syndrome. [1][2][3] SM results from a mutation of the keratin 17 gene (KRT17; OMIM 148069) within the type I keratin cluster on chromosome 17q21.2. 4 Keratin 17 is expressed in the sebaceous glands, nail bed, hair follicle and other epidermal appendages 5 .…”

Nevus comedonicus

“…These include manual extraction of comedones, dermabrasion, topical retinoic acid [32]and the use of topical keratolytic agents such as α-hydroxy and salicylic acids. Oral isotretinoin has been reported to decrease cyst formation without improving the appearance of comedones [30], and some cases of NC have been improved by hormonal (estrogen and progesterone) therapy [33]. Topical and systemic antibiotics are indicated to control infection.…”

“…Infrequently, multiple comedones in other unusual contexts may raise NC as a possible consideration [30]. …”