Familial Case of White Sponge Nevus – Diagnosis and Therapeutical Challenges

Acta Dermatovenerol Croat 2015;23(3):228-232 LETTER TO THE EDITOR Familial Case of White Sponge Nevus – Diagnosis and Therapeutical Challenges White sponge nevus (WSN) is a rare autosomal tifungal therapies and with local antiseptics, without dominant disorder with variable penetrance (1). It clinical benefit. Even though the lesions were asymp- was first described by Hyde in 1909 (2); in 1935 Can- tomatic, the patient was extremely concerned about non named it white sponge nevus (3). Several other their nature, as well as their unaesthetic aspect. names have been applied to this condition: Hyde- Clinical examination revealed a rough, folded Cannon’s disease, familial white folded dysplasia, surface of the oral mucosa, presenting thick white congenital leukokeratosis mucose oris, hereditary plaques, involving the soft and hard palate, the jugal leukokeratosis, and white folded gingivostomatosis. mucosa, the gingiva, the ventral tongue, the floor The lesions of WSN involve non-cornified strati- of the mouth, and the labial mucosa (Figure 2, 3). fied epithelia, especially of the oral mucosa. The sus- Although the large plaques were firmly attached to pected mechanism is a keratinization defect (1), mu- the underlying tissue, small fragments peeled away tations of keratin genes 4 and 13 being likely. These revealing a pale, thin mucosa. We also noticed good mutations lead to the disruption of the intracellular oral hygienic status, healthy teeth, and the absence filament network (4-6). of cervical adenopathies. No extraoral sites were in- WSN is characterized by the presence of white- volved. greyish, folded, spongy, and thickened plaques on Blood tests results were within normal ranges, the oral mucosa that are usually asymptomatic. Oc- including immunogram, human immunodeficiency casionally, extraoral sites are involved. WSN of the virus (HIV), and lupus erythematosus serology. Oral vaginal, rectal, nasal, and esophageal mucosa have bacterial and fungal infections were excluded based been described (7). The lesions are most often pres- on negative cultures. ent at birth or develop in early childhood, but due to the lack of associated symptoms they are discovered only incidentally and are frequently misdiagnosed as candidiasis (8). Diagnosis requires a high index of suspicion. A biopsy is generally needed for differential diagnosis. Apart from hyperkeratosis and acanthosis of the affected epithelium, histopathological examination reveals the characteristic eosinophilic perinuclear condensation representing aggregation of cytokera- tin filaments (9,10). We report a case of WSN in an oth- erwise healthy white male with a familial history of similar lesions in 6 other family members from three generations. An 18-year-old non-smoker male patient was referred to our Department for a 13-year history of white verrucous bilateral plaques on the oral mucosa. Presumed to be oral candidiasis, this condition had Figure 1. Family history of family affected by white been recurrently treated with systemic or topical an- sponge nevus (WSN). 228 ACTA DERMATOVENEROLOGICA CROATICA Letter to the editor Acta Dermatovenerol Croat 2015;23(3):228-232 Figure 2. Thick white plaques involving the ventral Figure 3. Rough, folded surface of the oral mucosa tongue. and thick white plaques. In order to rule out oral dysplasia and chronic oral lesions despite strict adherence to oral hygiene inflammatory disorders, an incisional biopsy was recommendations. Such episodes had no obvious performed. The histopathological exam revealed hy- trigger and manifested as a diffuse thickening of the perproliferative epidermis with focal parakeratosis, oral plaques with moderate pain and intolerance to moderate orthokeratosis, slight hypergranulosis with large keratohyalin granules in the superficial epithe- lial layers, and a discrete verruciform pattern. Sig- nificant acanthosis, spongiosis, and a minimal perile- sional chronic inflammatory infiltrate were also noted (Figure 4). These findings were suggestive of WSN. Considering the heritability of the disease, we examined the patient’s family members and found similar oral mucosa lesions in both his father and sis- ter. A thorough patient interview led to the identifica- tion of 4 other predecessors who suffered from white plaques of the oral mucosa. For personal reasons, the patient and his family refused genetic testing. Based on the clinical picture, family history, and histopathological data, we established the diagnosis of WSN. The patient and his family were assured of the benign nature of the disease. They were instructed how to keep good dental hygiene and were recommended mouth rinsing with clorhexidine 0.12% twice daily. Figure 4. Histopathological aspect of white Nevertheless, at follow-up visits, the patient com- sponge nevus (hematoxylin and eosin (H&E), plained of multiple episodes of worsening of the ×20). ACTA DERMATOVENEROLOGICA CROATICA 229 Letter to the editor Acta Dermatovenerol Croat 2015;23(3):228-232 extreme temperatures. Repeated fungal and bacte- Several studies revealed the importance of the rial cultures from oral samples taken during these prevention and immediate treatment of septic com- episodes yielded negative results. Moreover, the plications, particularly suprainfection with Staphylo- unaesthetic aspect of the lesions that involved not coccus aureus (11) or Candida albicans (12). Topical only the oral mucosa, but also the lips, had a pro- treatment with antibiotics such as tetracycline 0.25% foundly distressing effect on the patient. or 1% (13-16) or antiseptics such as clorhexidine Therefore, we decided to initiate low dose ther- 0.12% (11,17) can lead to partial or even complete apy with acitretin (10 mg/day) after obtaining the clearance of the lesions, with good symptomatic patient’s written informed consent. The patient was relief and also a sustained long-term prevention of monitored monthly for 3 months. He presented with recurrences. Several centers reported favorable im- no exacerbation during this interval, but the oral le- mediate results with administration of systemic beta- sions only modestly improved. As a consequence, lactam (13,15,18,19), macrolide (20), or tetracycline acitretin treatment was ceased after 3 months. antibiotics (13,18). However, in the long term, recurrences were frequent and the individual and epide- To our knowledge, this is the first case report of miological impact of antibiotherapy outweighed the the evolution of WSN under systemic retinoid treat- need for symptomatic control of WSN. Invasive ther- ment. apies such as CO2 and Nd:YAG (neodymium-doped WSN is a very rare clinical entity. A PubMed data- yttrium aluminium garnet; Nd:Y3Al5O12) laser va- base search identified 98 reports of WSN published porization have also been attempted with disap- between 1956 and 2014. pointing results (20,21). Surgical resection was also The clinical appearance of WSN is suggestive performed on limited oral lesions and was reported but not pathognomonic, so biopsy is usually recom- to be efficient (21). mended in order to differentiate it from other con- Although a benign and generally asymptomatic ditions, some with potentially severe repercussions. disease, WSN can be associated with significant dis- Oral candidiasis with a pseudomembranous appear- tress and impaired quality of life in affected individu- ance might suggest HIV infection and acquired im- als. This justifies the search for new therapies that munodeficiency syndrome. Oral florid papillomato- could provide long-term benefits. sis, similar in appearance, is also associated with HIV In view of the high efficiency of oral retinoids infection. Although other genodermatoses such as in the treatment of severe inherited keratinization pachyonychia congenita and benign intraepithelial disorders in children, such as lamellar ichthyosis or dyskeratosis might present similar mucous involve- bullous ichthyosiform erythroderma (22), and the ment, they can be excluded by the lack of concomi- reported partial improvement of WSN under topi- tant lesions in other sites, such as hyperkeratotic cal retinoid therapy (21,23), we believe the effect of nails and palmo-plantar skin and ocular plaques, oral retinoids on WSN should be the subject of fur- respectively. Mechanical factors, such as cheek bit- ther study. In our opinion, they represent attractive ing, or biochemical factors, such as smoking, might therapeutic agents, given their potential to regulate cause similar complaints but are easily eliminated accelerated epidermopoiesis and epidermal cell dif- by a thorough history. In leukoedema, the grey, pale ferentiation. lesion does not persist at the eversion of the buccal mucosa, differentiating it from WSN. It can also be Considering that response to oral acitretin is confused with oral lichen planus, although the re- dose dependent, the low dose administered in our ticular pattern, the presence of Wickham striae, and patient might explain the limited benefit observed in the rare onset during childhood in the later should this case. Nevertheless, acitretin treatment is usually aid the differential diagnosis. Honeycomb plaques of started at very low doses in keratinization disorders oral lupus erythematosus or the verrucous oral mani- (ichtyosis, palmo-plantar keratoderma, Darier’s dis- festation of the same disease should be discarded by ease) in order to prevent initial exacerbation and to histopathological examination. Biopsy is mandatory avoid potential side effects that are also dose depen- in cases

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