Ann Dermatol.  2016 Apr;28(2):232-236. 10.5021/ad.2016.28.2.232.

Melkersson-Rosenthal Syndrome with Genitalia Involved in a 12-Year-Old Boy

• Chu Z
• Liu Y
• Zhang H
• Zeng W
• Geng S

• KMID: 2171382
• DOI: http://doi.org/10.5021/ad.2016.28.2.232

Abstract

Melkersson-Rosenthal syndrome (MRS) is an uncommon granulomatous disease characterized by the triad of relapsing facial paralysis, orofacial swelling, and fissured tongue. Genital swelling in MRS is rarely reported. We presented the first case of complete MRS with genital swelling in a child. Biopsy examinations of both the child's lower lip and penis showed noncaseating granuloma and intralymphatic granuloma infiltration. No symptoms or signs of other systemic disease (Crohn's disease or sarcoidosis) were observed after 2 years of follow-up. Genetic screening for CARD15/NOD2 in this patient showed negative, which further confirmed the diagnosis of MRS. Eleven other cases of suspected complete or incomplete MRS with genitalia involved were reviewed. Our case emphasizes the specific clinical feature of MRS with genitalia involved, which was genetically different from Crohn's disease and could be an independent entity. Lymphatic obstruction is responsible for localized edema in MRS.

Keyword

Genitalia; Lymphatic vessels; Melkersson?Rosenthal syndrome

MeSH Terms

Biopsy
Child*
Crohn Disease
Diagnosis
Edema
Facial Paralysis
Follow-Up Studies
Genetic Testing
Genitalia*
Granuloma
Humans
Lip
Lymphatic Vessels
Male*
Melkersson-Rosenthal Syndrome*
Penis
Tongue, Fissured

Figure

• 

  Fig. 1 Clinical images of the patient. Erythematous swelling of the lower lip with crust and fissure on the surface (A), fissured tongue (B), droop of the mouth angle, shallower nasolabial groove on the right face (C), edematous swelling of the penis (D), significant improvement of the lower lip (E), and penis (F) after 2 years' therapy.

• 

  Fig. 2 Hematoxylin-eosin staining results. (A) Biopsy examination of the lower lip showed lymphocytes, histiocytes, and plasma cells accumulated in the dermis, forming noncaseating granuloma (×100). (B) Biopsy examination of the penis. Noncaseating granuloma can also be observed in the biopsy examination of the penis (×200). (C) Biopsy specimen of the lower lip. Some granuloma is located in the deep muscle layer (×400). (D) Biopsy specimen of the penis. Histiocytes were found within dilated vessels ×400).

• 

  Fig. 3 Immunohistochemical staining results. (A) Histiocytes marked by CD68 were crowded in the granuloma region (×100). (B) Some CD68-positive histiocytes are located within dilated vessel (×400). (C) Histiocytes and lymphocytes can be observed within the lymphatic vessels highlighted by D2-40 in and outside the granuloma region (×200). (D) Blood vessels marked by CD31 can also be found in the center of granuloma with empty cavities (×400).

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