Familial progeria or mandibulo-acral dysplasia?

June 27, 2017 | Autor: Gioacchino Scarano | Categoria: Genetics, Face, Mandible, Skin, Clinical Sciences, Progeria, ALOPECIA, Joints, Osteolysis, Progeria, ALOPECIA, Joints, Osteolysis
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American Journal of Medical Genetics 41:139 (1991)

Letter to the Editor

Familial Progeria or Mandibulo-Acral Dysplasia? To the Editor: We read with extreme interest the recent article “Hutchinson-Gilford Progeria: Familial Occurrence” [Parkash et al., 19901. Although there is no doubt that the authors deal with a progeroid condition, nevertheless Hutchinson-Gilford progeria (HGP) may not be the only possible diagnosis within the group of so-called premature aging diseases. Particularly, Parkash et al.’s cases show all of the 14 main traits that characterize mandibulo-acral dysplasia (MAD), according to our review of 26 published cases and 4 personal observations [Cusano et al., 19901 (Table I). HGP may show similar bone and skin changes too [Badame, 19891, but it may be distinguished by total absence of hair, disproportionately large head and thin trunk, earlier onset, and more severe course with precocious atherosclerosis and death within the 3rd decade of life, with the notable exception of the patient described by Ogihara et al. 119861, who died of complications of atherosclerosis at age 45. These traits are all lacking in the patients described by Parkash et al., thus casting some doubts on their diagnosis of HGP. A major problem may be to distinguish MAD from Gottron’s acrogeria (GA), another poorly defined, benign variant of HGP. GA presents the same skin changes as MAD and HGP, and it was recently shown to share similar bone dysplasias too [Ho et al., 19871.Actually, GA is thought to be a variant of Ehlers-Danlos syndrome type IV due to the lack of type I11 collagen production by fibroblasts [Pope et al., 19881. Cases in which normal amounts of type I11 collagen were produced have also been described [Bruckner-Tuderman et al., 19871. Therefore, it has been suggested that a similar clinical picture can be produced by different biochemical defects. We think that MAD (sporadicor autosoma1 recessive) could represent an extremity of the clinical range of GA, with Ehlers-Danlos syndrome type IV (sporadic or autosomal dominant) as the other extremity. Be that as it may, it is our opinion that, according to present knowledge and based on clinical evidence, the cases described by Parkash et al. should be more correctly classified as cases of MAD.

TABLE I. Mandibulo-Acral Dysplasia: Most Frequent Findings in 30 Patients Trait Atrophic skin Poikylodermia Broad short phalanges Acro-osteolysis Clavicular hypoplasia Nail changes Wide cranial sutures Mandibular hypoplasia Stiff joints Pseudoexophthalmos Short stature Beaked nose Facial hypoplasia Alopecia

Fraction of Total” 26/26 26/26 25/25 21/22 20122 19/21 17/19 22/26 20124 19/25 19/26 17/24 10120 12/25

Total is the number of patients with available information for each trait.

a

REFERENCES Badame AJ (1989):Progeria. Arch Dermatol 125:540-544. Bruckner-Tuderman I, Vogel A, Schnyder UW (1987):Fibroblasts of a n Acrogeria patient produce normal amounts of type I and I11 collagen. Dermatologica 174:157-165. Cusano F, De Masi C, Capozzi M, Errico G, Barra E, Manco A (1990): Mandibulo-acral dysplasia. Proceedings of the 3rd Congress of the European Society for Pediatric Dermatology, Bordeaux (France), September 21-22, p 138. Ho A, White SJ,Rasmussen J E (1987):Skeletal abnormalities of acrogeria, a progeroid syndrome. Skeletal Radio1 16:463-468. Ogihara T, Hata T, Tanaka K, F’ukuchi T, Tabuchi Y, Kumahara Y (1986): Hutchinson-Gilford progeria syndrome in a 45-year-old man. Am J Med 81:135-138. Parkash H, Sidhu SS, Raghavan R, Deshmukh RN (1990):HutchinsonGilford progeria: Familial occurrence. Am J Med Genet 36: 431-433. Pope FM, Nicholls AC, Narcisi P, Temple A, Chia Y, Fryer P, De Paepe A, De Groote WP, McEwan JR, Compston DA, Oorthuys H, Davies J , Dinwoodie DL (1988): Qpe I11 collagen mutations in EhlersDanlos Syndrome type IV and other related disorders. Clin Exp Dermatol 13:285-302.

Francesco Cusano Division of Dermatology “G. Rummo” General Hospital Via dell’Angelo, 1 Benevento, Italy Gioacchino Scarano Medical Genetics Center “G. Moscati” General Hospital Avellino, Italy

Received for publication October 31, 1990.

0 1991 Wiley-Liss, Inc.

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