Grönblad-Strandberg syndrome

A rare hereditary disorder with degenerated elastic fibres present in the skin, blood vessels and heart, due to calcification of elastic fibres. The skin abnormalities present with raised, soft yellowish papules, especially around the mouth, neck, axillae, elbows, groin, and periumbilical areas, sometimes involving most parts of the skin. The skin has been likened to the appearance of the skin of a plucked chicken. Ocular features usually include angioid streaks, retinal haemorrhage, loss of visual acuity, and, sometimes, macular degeneration and chorioretinitis. Cardiovascular complications generally consist of absence of the pulse in the arms and legs, intermittent claudication, hypertension, angina pectoris, peripheral periarterial calcification, and stenosis of the celiac artery.

There are four genetically distinct variants - 2 dominant and 2 autosomal recessive forms. It occurs in the second decade of life or later, more often in females, and frequently in consanguineous marriages. Occasionally associated with Paget’s syndrome, Marfan’s syndrome, Herrick’s syndrome, Albers-Schönberg’s syndrome.

The cutaneous manifestations were documented by D. Rigal in 1881 and the autopsy findings were reported by Félix Balzer (1849-1929) in 1884. In 1889 Anatole Marie Émile Chauffard (1855-1932) gave a detailed description of the skin manifestations of a French soldier, who had suffered from haematemesis during his military service in New Caledonia. The condition was initially regarded as a xanthomatosis, but was differentiated from this group of disorders by Ferdinand-Jean Darier (1856-1938) in 1896, following histological studies of s skin biopsy specimen from Chauffard's patient. The patient went on to develop visual problems; Hallopeau and Laffitte in 1903 documented the retinal changes and made a tentative suggestion that the cutaneous and ocular features might be manifestations of the same basic defect. Grönblad and her collaborator James Strandberg in 1929 first described the complete syndrome. The term Grönblad-Strandberg syndrome was suggested by Adolphe Franceschetti (1896-1968) and C. Roulet in 1945. The term "pseudoxanthoma elasticum" is now generally preferred over the eponymic designation.

Chauffard: "This is a man of 35 years … At 24 years of age, while doing his military service in New Caledonia, he suffered a large haematemesis. This accident repeated itself several times (at age 26, 31 and 33). This summer he was admitted to Hôtel-Dieu for a haematemesis."
In 1880 L was discharged from the army and returned to France; and it was shortly afterwards, he states, when he noted the beginning of his skin affection.…. The xanthomatous eruption is composed of a series of evolving groups, perfectly symmetrical and confined exclusively to several flexural folds – the base of the neck, the two axillary creases, the folds of the elbows, the anterior abdominal wall, especially just below the umbilicus, the two inguinal triangles, the inferior aspect of the penis, around the anus, the two poplietal fossae…. The centre of the group is formed by an almost confluent agglomeration of intradermal plaques, soft to touch, projecting to some extent like papules, separated by small folds of skin. Their coloration is rather pale, resembling that of fresh butter or yellow chamois; the size of the largest plaque is scarcely greater than that of a pea.…. If one retracts both lips, one sees that the mucosa of the inner aspect is involved. It demonstrates a cluster of small, yellowish intramucosal nodules, resting on a richly vascular background traversed by numerous dilated and tortuous capillaries."

• D. Rigal:
  Observation pour servir à l'histoire de la chéloide diffuse xanthelmique.
  Annales de dermatologie et de syphiligraphie, Paris, 1881, 2: 491-501.
• F. Balzer:
  Recherches sur les charactères anatomiques du xanthélasma.
  Archives de physiologie normale et pathologique, Paris, 1884, 4 (series 3): 65-80.
• A. M. E. Chauffard:
  Xanthélasma disséminé et symétrique, sans insuffisance hépatique.
  Bulletins et memoires de la Société medicale des hôpitaux de Paris, 1889, 3 sér., 6: 412-419.
• J. Darier:
  Pseudoxanthoma elasticum.
  Monatshefte für praktische Dermatologie, Hamburg, 1896, 23: 609-617.
• M. J. Darier:
  Pseudoxanthoma élastique. Annales de dermatologie et de syphiligraphie, Paris, 1896, 7: 1211.
  Transactions of the International Congress on Dermatology, London, 1896: 289.
• François Henri Hallopeau (1842-1919) and P. Laffitte:
  Nouvelle note sur un cas de pseudoxanthome élastique.
  Annales de dermatologie et syphiligraphie, Paris, 1898, 45: 323-328.
• E. Grönblad:
  Angioid streaks - pseudoxanthoma elasticum: vorläufige Mitteilung.
  Acta Ophthalmologica, Copenhagen, 1929, 7: 329. Angioid streaks - pseudoxanthoma elasticum : Der Zusammenhang zwischen diesen gleichzeitig auftretenden Augen- und Hautveränderungen.
  Doctoral dissertation.
  Acta Ophthalmologica. Supplementum 1, Copenhagen, 1932, volume 10. Pseudoxanthoma elasticum and changes in the eye.
  Acta Dermato-Venerologica, Stockholm, 1932/1933, 13: 417-422. Colour photography of angioid streaks in the late stages.
  Acta ophthalmologica, Copenhagen, 1959, 36: 472-474.
• J. Strandberg:
  Pseudoxanthoma elasticum.
  Meeting of the Dermatological Society in Stockholm.
  Published in: Zentralblatt für Haut- und Geschlechtskrankheiten, 1929-1930, 31: 689.
• A. Franceschetti, C. Roulet:
  Le syndrome de Grönblad et Strandberg (stries, angioides de la rétine et pseudoxanthome élastique) et ses rapports avec d’autres affectations du mésenchyme.
  Bull Mém Soc franç d’ophth, 1935, 48: 416-422.
• A. Touraine:
  L’elastorrhexie systématisée.
  Bulletin de la Société française de dermatologie et de syphiligraphie et de ses filiales, 1940, 47: 225-273.
• A. T. Van Baalen, A. J. Holtsmüller:
  Syndrome of Grönblad-Strandberg-Touraine.
  Ophthalmologica, Basel, 1965, 149: 246-247.