INTRODUCTION

Epidermoid cysts or epidermal cysts (EC) are cystic formations containing keratin and its breakdown products encased in an epidermoid wall. They classically occur in young adults and are unique and localized in the cephalic region. Multiple ECs are rarely found and a size > 5 cm defining a giant form may be observed, which should prompt a search for a syndromic form [1].

Herein, we report a case of multiple generalized epidermoid cysts associated with atrophic scarring secondary to a giant cyst rupture revealing Gardner syndrome.

CASE REPORT

A 56-year-old male was admitted to the gastroenterology department for chronic diarrhea. On admission, clinical examination revealed a cachectic patient with multiple skin-colored nodules, evolving for over ten years, slowly multiplying and increasing in size. The lesions were asymptomatic, and the patient had never sought treatment.

A clinical examination of the lesions revealed painless nodules covered with non-inflammatory skin, with variable size, cystic consistency, spread to several locations of the body on the face, neck, thorax, back, and lower limbs, associated with multiple comedones, Winer pores, and atrophic scars (Figs. 1a – 1c). On the lower limbs, atrophic plaques measuring between 4 cm and 10.5 cm in diameter were found, with a vermiculated surface dotted with open comedones (Fig. 2). This lesion was secondary to the confluence of giant, epidermoid, ruptured cysts, giving way to atrophic scarring.

	Figure 1: (a-c) Multiple epidermoid cysts (> 20) on the head, neck, and trunk.
	Figure 2: Atrophic plaques on the lower limbs with a vermiculated surface measuring between 4 cm and 10.5 cm in diameter.

Ultrasound of the soft tissue confirmed the cystic nature of the nodules, and skin biopsies from two sites revealed the presence of lamellar keratin.

Gastrointestinal investigations conducted during his hospitalization revealed a hundred colorectal adenomatous polyps, macroscopically sessile, benign for some and with low- and high-grade dysplasia for others.

Gardner syndrome was, therefore, suggested and retained, given the association of epidermoid cysts and gastrointestinal polyposis with dental inclusion detected on panoramic radiography. No other bone abnormalities, ocular involvement, fibrous or endocrine tumors were detected after further radiological examination.

The patient was scheduled for total colo-protectomy with ileo-anal anastomosis. Surgical excision of epidermal cysts with dental management was also performed, and CO₂ laser therapy for the atrophic scarring was scheduled.

DISCUSSION

Gardner syndrome is a rare genodermatosis that associates familial adenomatous polyposis (FAP) with a mutation of the anaphase-promoting complex (APC) and a dominantly inherited predisposition to colorectal cancer. This autosomal dominant syndrome is characterized by a relatively high rate of spontaneous mutation, hence the absence of systematic occurrence in family members [2]. Although benign, the non-intestinal signs are important diagnostic features that usually precipitate the recognition of this condition. These include osteomas, cutaneous cysts, desmoid tumors, and dento-maxillary involvement [3].

Epidermoid cysts are one of the main dermatological manifestations of Gardner syndrome. They usually occur in uncommon locations, around puberty. Their multiplicity should systematically motivate syndromic screening examinations [4].

The particularity of our case lied in the generalized and multiple nature of the lesions, yet also, essentially, in the exceptionally atrophic and vermiculated appearance caused by the involution of several giant epidermoid cysts. No similar presentation has been described in the literature so far.

The management of FAP aims to surgically treat extradigestive manifestations and prevent colorectal cancer, which occurs in 100% of untreated cases [2] and consists of a total procto-colectomy with ileo-anal or ileo-rectal anastomosis. Although Gardner syndrome has no specific screening guidelines, the usual guidelines applied to the screening of extra-colonic malignant tumors, by digestive, genetic, and systemic explorations, should be applied with a complete annual examination, particularly of the thyroid gland, liver, and nervous systems [3].

CONCLUSION

Due to its rarity, Gardner syndrome may be overlooked, leading to delayed diagnosis, as illustrated in our case, and discovery at the stage of colonic adenocarcinoma, hence the importance of systematic screening in the presence of any of the extradigestive signs involved.

Consent

The examination of the patient was conducted according to the principles of the Declaration of Helsinki.

The authors certify that they have obtained all appropriate patient consent forms, in which the patients gave their consent for images and other clinical information to be included in the journal. The patients understand that their names and initials will not be published and due effort will be made to conceal their identity, but that anonymity cannot be guaranteed.

REFERENCES

1. Sutedja EK, Tsaqilah L, Sutedja E, Diana IA, Gunawan H. An unusual and rare case of generalized multiple epidermoid cysts with a giant epidermoid cyst. Int Med Case Rep J. 2020;13:557-62.

2. Juhn E, Khachemoune A. Gardner syndrome:Skin manifestations, differential diagnosis and management. Am J Clin Dermatol. 2010;11:117-22.

3. Koh KJ, Park HN, Kim KA. Gardner syndrome associated with multiple osteomas, intestinal polyposis, and epidermoid cysts. Imaging Sci Dent. 2016;46:267-72.

4. Tan KL, Wilson S, O’Neill C, Gordon D, Napier S. Something not quite right:Gardner syndrome diagnosed by multiple cutaneous lesions and genetic testing. Surgeon. 2005;3:412-5.