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Volume 68 July 1975
449
Section of Dermatology President G C Wells FRCP
Meeting 17 October 1974
Cases Epidermolysis Bullosa Dystrophica T J Ryan FRCP and M J 0 Francis DPhil (Department of Dermatology, Slade Hospital, Oxford) and W B Reed MD (Burbank, California, USA) A S, man aged 67 History: All his life persistent generalized blistering eruption, excepting palms and soles, which has not prevented him working as a farm labourer. No family history. 1971: Extensive squamous cell carcinoma in scar tissue on left leg, treated by mid-thigh amputation. Following this, more widespread hemorrhagic bullk. Histology: Subepidermal bullous lesion containing fibrinous material and a few inflammatory cells with eosinophils. Immunofluorescence (University Dermatology Department, Glasgow), negative for bound complement, IgG, IgA and IgM.
Skin collagen profile: Collagen fractions extracted from a biopsy of the nonlesional skin of the thigh were estimated by the methods of Francis & Macmillan (1971). Total collagen was reduced (patient 165, controls > 170 ptg/mm2 skin surface), soluble collagen increased (patient 2.5 %, controls 78%; patient 73%, controls >79%). The patient thus had an abnormal skin collagen profile. Collagen turnover is increased and the net rate of synthesis/ degradation of collagen is shifted towards degradation. Comment
Although his parents are unrelated, the patient comes from a small close-knit community. The severe scarring on the legs and subsequent squamous cell carcinoma, together with nail involvement, are compatible with the recessive
type of epidermolysis bullosa in which Reed et al. (1974) have reported a high incidence of carcinoma. It may be due to a connective tissue defect. However, absence of oral lesions and nonscarring appearance elsewhere would suggest epidermolysis bullosa simplex which is of dominant inheritance and where the nails are usually unaffected. This inverse pattern of epidermolysis, sparing hands and feet and yet involving the nails, caused Tobias Geddes-Dahl (1971) tentatively to classify this case as of congenital generalized inverse, non-lethal type. Studies of the collagen profile in our patient show a degree of instability not detected in a sample of skin from such an inverse patient recently sent to us by Geddes-Dahl. Our patient's profile is similar to that of 5 other patients with epidermolysis bullosa dystrophica. REFERENCES Francis M J 0 & Macmillan D C (1971) Biochimica et biophysica acta 251, 236 Geddes-Dahl T (1971) Epidernolysis Bullosa. A Clinical Genetic and Epidemiological Study. John Hopkins Press, Baltimore Reed W B, Francis M J 0, Zachariae H, Mohs F, Sher M A & Sneddon I B (1974) Archives of Dermatology 110, 892
Subcutaneous Granulomata J R S Rendall MRCP (for H R Vickers VRD MB FRCP and T J Ryan BM FRCP)
(Department of Dermatology, The Slade Hospital, Oxford) I L, woman aged 65 History: One year ago noticed a lump beneath her right eye. Two others developed on the face, another on the left side of her neck and several under the skin of her trunk. She has also suffered with a persistent irritation of the nose, occasionally associated with a mucoid, sometimes bloodstained discharge and, for the last ten years, with recurrent episodes of episcleritis.
Volume 68 July 1975
449
Section of Dermatology President G C Wells FRCP
Meeting 17 October 1974
Cases Epidermolysis Bullosa Dystrophica T J Ryan FRCP and M J 0 Francis DPhil (Department of Dermatology, Slade Hospital, Oxford) and W B Reed MD (Burbank, California, USA) A S, man aged 67 History: All his life persistent generalized blistering eruption, excepting palms and soles, which has not prevented him working as a farm labourer. No family history. 1971: Extensive squamous cell carcinoma in scar tissue on left leg, treated by mid-thigh amputation. Following this, more widespread hemorrhagic bullk. Histology: Subepidermal bullous lesion containing fibrinous material and a few inflammatory cells with eosinophils. Immunofluorescence (University Dermatology Department, Glasgow), negative for bound complement, IgG, IgA and IgM.
Skin collagen profile: Collagen fractions extracted from a biopsy of the nonlesional skin of the thigh were estimated by the methods of Francis & Macmillan (1971). Total collagen was reduced (patient 165, controls > 170 ptg/mm2 skin surface), soluble collagen increased (patient 2.5 %, controls 78%; patient 73%, controls >79%). The patient thus had an abnormal skin collagen profile. Collagen turnover is increased and the net rate of synthesis/ degradation of collagen is shifted towards degradation. Comment
Although his parents are unrelated, the patient comes from a small close-knit community. The severe scarring on the legs and subsequent squamous cell carcinoma, together with nail involvement, are compatible with the recessive
type of epidermolysis bullosa in which Reed et al. (1974) have reported a high incidence of carcinoma. It may be due to a connective tissue defect. However, absence of oral lesions and nonscarring appearance elsewhere would suggest epidermolysis bullosa simplex which is of dominant inheritance and where the nails are usually unaffected. This inverse pattern of epidermolysis, sparing hands and feet and yet involving the nails, caused Tobias Geddes-Dahl (1971) tentatively to classify this case as of congenital generalized inverse, non-lethal type. Studies of the collagen profile in our patient show a degree of instability not detected in a sample of skin from such an inverse patient recently sent to us by Geddes-Dahl. Our patient's profile is similar to that of 5 other patients with epidermolysis bullosa dystrophica. REFERENCES Francis M J 0 & Macmillan D C (1971) Biochimica et biophysica acta 251, 236 Geddes-Dahl T (1971) Epidernolysis Bullosa. A Clinical Genetic and Epidemiological Study. John Hopkins Press, Baltimore Reed W B, Francis M J 0, Zachariae H, Mohs F, Sher M A & Sneddon I B (1974) Archives of Dermatology 110, 892
Subcutaneous Granulomata J R S Rendall MRCP (for H R Vickers VRD MB FRCP and T J Ryan BM FRCP)
(Department of Dermatology, The Slade Hospital, Oxford) I L, woman aged 65 History: One year ago noticed a lump beneath her right eye. Two others developed on the face, another on the left side of her neck and several under the skin of her trunk. She has also suffered with a persistent irritation of the nose, occasionally associated with a mucoid, sometimes bloodstained discharge and, for the last ten years, with recurrent episodes of episcleritis.
