Dermochondrocorneal Dystrophy

Clinical Characteristics
Ocular Features: 

A corneal dystrophy is part of this syndrome.  Patients develop confluent, drop-like subepithelial whitish-brown infiltrates of the central cornea with some anterior stromal involvement together with stellate anterior cortical cataracts.  The intervening stroma appears hazy.  The epithelial surface remains intact but may be irregular over the superficial stromal infiltrates. The corneal opacities follow the skin and hand deformities and may be accompanied by a vascularized pannus.  Diagnosis can usually be made in the first decade of life.  Visual acuity in young adults may be reduced to the 20/80 - 20/100 range.

Systemic Features: 

Xanthomatous nodules are primarily located on the pinnae, hands, elbows, and nose.  Most of the nodules are small and primarily of cosmetic significance.  They have also been reported in oral mucosa and gingival tissue.  Hyperplasia of the oral mucosa is common.  Deformities of the hands and feet are also seen.

Genetics

Both autosomal dominant and autosomal recessive modes of inheritance have been proposed but insufficient numbers of families have been reported to be conclusive.

Treatment
Treatment Options: 

Corneal grafts could be visually beneficial but the vascularized pannus increases the risk of rejection.  CO2 laser treatment can reduce the cutaneous chondromes.  Gingival lesions and hyperplasia of the oral mucosa may require surgical treatment.

References
Article Title: 

References

Baumgartner-Nielsen J, Hjortdal J, Fogh K. Dermochondrocorneal dystrophy (Francois' syndrome). Acta Derm Venereol. 2010 Jul;90(4):412-3.

PubMedID: 20574610

Caputo R, Sambvani N, Monti M, Cavicchini S, Carrassi A, Ratiglia R. Dermochondrocorneal dystrophy (Fran?ssois' syndrome). Report of a case. Arch Dermatol. 1988 Mar;124(3):424-8.

PubMedID: 3257860

Bierly JR, George SP, Volpicelli M. Dermochondral corneal dystrophy (of Fran?ssois). Br J Ophthalmol. 1992 Dec;76(12):760-1.

PubMedID: 1486084