 |
The Ophthalmology Unit, Universiti Malaysia Sarawak (UNIMAS), Kuching, Sarawak. |
| The Ophthalmology Department, Sarawak General Hospital, Kuching, Sarawak, East Malaysia. |
aCase 1 Answers
by Dr. Chua
This 15-year-old girl was referred from the endocrinology department because of these eyelid lesions and reduced vision. She suffered from hypopituitarism and renal failure of unknown cause. Her vision was CF (counting finger) in both eyes. Fundal examination revealed tilted discs and refractions showed moderate myopia of -3.00 but the vision remained poor at 6/60. Biopsy of the lesion revealed "horn cysts with keratinized centre surrounded by basophilic cells." A CT scan was arranged but the patient developed sepsis and died before this could be done.
a. What is the most likely diagnosis of these skin lesions?
Multiple trichoepitheliomas.
These are hamartomas arising from hair follicular epithelium and occur predominantly on the face. The lesions typically appear after puberty and affect female more than male. Histologically, the lesion contains basophilic cells with peripheral palisading surround multiple horn cysts. This lesion may be sometimes mistaken for basal cell carcinoma but for its abundant keratin appearing as horn cysts. Multiple forms are disfiguring because they tend to affect the face. Surgical excision is the treatment of choice. Skin graft may be needed in extensive cases.
b. Is this condition inherited?
Multiple trichoepitheliomas, in contrast to solitary trichoepithelioma, are inherited in an autosomal dominant fashion with variable penetrance. The gene for familial form has been mapped to chromosome 9p21.
c. Is there an association between the skin lesions and her medical conditions?
Trichoepitheliomas are rarely associated with systemic medical conditions. There are only 2 reports of multiple trichoepitheliomas associated with autoimmune diseases (see reference below).
กก
References:
Multiple basaloid cell hamartoma with alopecia and autoimmune disease (systemic lupus erythematosus). J Dermatol. 1996 Nov;23(11):821-4. Akasaka T, Kon S, Mihm MC Jr.Tsuru K,
กกA case of generalized hair follicle hamartoma associated with systemic lupus erythematosus. J Dermatol. 2004 Jul;31(7):573-6. Ohashi A, Ueda M.
กก
