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Coexistence of porokeratosis of Mibelli with Gardner's syndrome: A rare case report.

Ali SY, Prabhat S, Ramanamurty ChV, Salma M, Hussain S, Murtaza AS - Indian Dermatol Online J (2011)

Bottom Line: Porokeratosis represents a heterogeneous group of disorders characterized clinically by a distinctive ridge-like border and histologically by cornoid lamellae.Gardner's syndrome, a variant of familial adenomatous polyposis (FAP), is an autosomal dominant disease characterized by colorectal polyps, osteomas, epidermoid cysts and soft tissue tumors.Here we report a case of 18 yr old female who presented with porokeratosis of Mibelli with osteoma, multiple epidermoid cytsts, and solitary rectal polyp.

View Article: PubMed Central - PubMed

Affiliation: Department of Dermatology and STD, Shadan Institute of Medical Sciences, Peerancheru, Hyderabad, Andhra Pradesh, India.

ABSTRACT
Porokeratosis represents a heterogeneous group of disorders characterized clinically by a distinctive ridge-like border and histologically by cornoid lamellae. Gardner's syndrome, a variant of familial adenomatous polyposis (FAP), is an autosomal dominant disease characterized by colorectal polyps, osteomas, epidermoid cysts and soft tissue tumors. Here we report a case of 18 yr old female who presented with porokeratosis of Mibelli with osteoma, multiple epidermoid cytsts, and solitary rectal polyp.

No MeSH data available.


Related in: MedlinePlus

Epidermoid cysts
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Figure 2: Epidermoid cysts

Mentions: An 18-year-old female of low socio-economic status presented to skin OPD with complaints of multiple skin lesions all over the body and swellings on the face, scalp, and extremities of five years duration. Lesions started to develop on the scalp insidiously, and later on left mandible, face, and extremities. Clinical examination of the patient revealed multiple skin plaques present on the face, forearms, back and both lower extremities with elevated margin with a prominent deep furrow and central part showed normal skin [Figure 1]. Fluctuant skin swellings were observed on the scalp and back of trunk, with punctum [Figure 2]. Over the body of left ramus of mandible, there was a bony hard, painless, swelling [Figure 3]. Physical examination of other systems including dental and ophthalmological examination was unremarkable. A clinical diagnosis of Porokeratosis of Mibelli, epidermoid cysts, and osteoma of mandible was made. Family history of the index case revealed father had dysphagia, pain abdomen with episodes of bleeding per rectum, and ultimately died of us suspected gastrointestinal (GIT) origin malignancy. No records of his illness were available. Biopsy of the skin plaques, along with the excision biopsy of cystic swelling over scalp and bony hard swelling of left mandible was done. Because of the family history and clinical presentation (sebaceous cysts and osteoma), a colonoscopy was done which revealed a solitary rectal polyp of 1 × 1.5 cm in size situated 7.0 cm from anal verge. In due course, polypectomy was done and subjected for histological study.


Coexistence of porokeratosis of Mibelli with Gardner's syndrome: A rare case report.

Ali SY, Prabhat S, Ramanamurty ChV, Salma M, Hussain S, Murtaza AS - Indian Dermatol Online J (2011)

Epidermoid cysts
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC3481819&req=5

Figure 2: Epidermoid cysts
Mentions: An 18-year-old female of low socio-economic status presented to skin OPD with complaints of multiple skin lesions all over the body and swellings on the face, scalp, and extremities of five years duration. Lesions started to develop on the scalp insidiously, and later on left mandible, face, and extremities. Clinical examination of the patient revealed multiple skin plaques present on the face, forearms, back and both lower extremities with elevated margin with a prominent deep furrow and central part showed normal skin [Figure 1]. Fluctuant skin swellings were observed on the scalp and back of trunk, with punctum [Figure 2]. Over the body of left ramus of mandible, there was a bony hard, painless, swelling [Figure 3]. Physical examination of other systems including dental and ophthalmological examination was unremarkable. A clinical diagnosis of Porokeratosis of Mibelli, epidermoid cysts, and osteoma of mandible was made. Family history of the index case revealed father had dysphagia, pain abdomen with episodes of bleeding per rectum, and ultimately died of us suspected gastrointestinal (GIT) origin malignancy. No records of his illness were available. Biopsy of the skin plaques, along with the excision biopsy of cystic swelling over scalp and bony hard swelling of left mandible was done. Because of the family history and clinical presentation (sebaceous cysts and osteoma), a colonoscopy was done which revealed a solitary rectal polyp of 1 × 1.5 cm in size situated 7.0 cm from anal verge. In due course, polypectomy was done and subjected for histological study.

Bottom Line: Porokeratosis represents a heterogeneous group of disorders characterized clinically by a distinctive ridge-like border and histologically by cornoid lamellae.Gardner's syndrome, a variant of familial adenomatous polyposis (FAP), is an autosomal dominant disease characterized by colorectal polyps, osteomas, epidermoid cysts and soft tissue tumors.Here we report a case of 18 yr old female who presented with porokeratosis of Mibelli with osteoma, multiple epidermoid cytsts, and solitary rectal polyp.

View Article: PubMed Central - PubMed

Affiliation: Department of Dermatology and STD, Shadan Institute of Medical Sciences, Peerancheru, Hyderabad, Andhra Pradesh, India.

ABSTRACT
Porokeratosis represents a heterogeneous group of disorders characterized clinically by a distinctive ridge-like border and histologically by cornoid lamellae. Gardner's syndrome, a variant of familial adenomatous polyposis (FAP), is an autosomal dominant disease characterized by colorectal polyps, osteomas, epidermoid cysts and soft tissue tumors. Here we report a case of 18 yr old female who presented with porokeratosis of Mibelli with osteoma, multiple epidermoid cytsts, and solitary rectal polyp.

No MeSH data available.


Related in: MedlinePlus