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[Cutaneous signs of Noonan's syndrome. Apropos of a case with ulerythema ophyogenes, disseminated pilar and sudoral keratosis and progressive alopecia].
Ann Dermatol Venereol 1988; 115(3):303-10AD

Abstract

A case of typical Noonan syndrome (NS) with eye abnormalities, pterygium colli, cryptorchid testes, lymphoedema and asymmetrical cardiac septal hypertrophy is reported in a 8-month old infant. This case was particularly interesting since it included skin manifestations which enabled an early diagnosis to be made. Ulerythema ophryogenes has already been proposed as a cutaneous marker of NS, but the keratinization disorders in our patient also included disseminated keratosis of both hair follicles and sweat glands orifices. Abnormally brittle short curly hair has already been reported, but our patient exhibited progressive alopecia which is very rare in NS. Biochemical hair analysis did not show any abnormalities of aminoacids. All these features were suggestive of keratosis follicularis spinulosa decalvans. It therefore seems very likely that NS is associated with keratinization disorders but ulerythema ophryogenes might only be the limited form of these disorders. The other skin manifestations of NS are reviewed. Since the patient had 4 "café au lait" spots, the relation of NS with Von Recklinghausen syndrome, and neurofibromatosis-Noonan syndrome is discussed. Watson's Leopard and cardio-facial syndromes overlap with, and may represent subsets of NS.

Authors+Show Affiliations

Service de Dermatologie, Hôpital Sainte-Marguerite, Marseille.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
English Abstract
Journal Article

Language

fre

PubMed ID

3408121

Citation

Grob, J J., et al. "[Cutaneous Signs of Noonan's Syndrome. Apropos of a Case With Ulerythema Ophyogenes, Disseminated Pilar and Sudoral Keratosis and Progressive Alopecia]." Annales De Dermatologie Et De Venereologie, vol. 115, no. 3, 1988, pp. 303-10.
Grob JJ, Laure M, Berge G, et al. [Cutaneous signs of Noonan's syndrome. Apropos of a case with ulerythema ophyogenes, disseminated pilar and sudoral keratosis and progressive alopecia]. Ann Dermatol Venereol. 1988;115(3):303-10.
Grob, J. J., Laure, M., Berge, G., Taramasco, M., Bore, P., Benderitter, T., ... Bonerandi, J. J. (1988). [Cutaneous signs of Noonan's syndrome. Apropos of a case with ulerythema ophyogenes, disseminated pilar and sudoral keratosis and progressive alopecia]. Annales De Dermatologie Et De Venereologie, 115(3), pp. 303-10.
Grob JJ, et al. [Cutaneous Signs of Noonan's Syndrome. Apropos of a Case With Ulerythema Ophyogenes, Disseminated Pilar and Sudoral Keratosis and Progressive Alopecia]. Ann Dermatol Venereol. 1988;115(3):303-10. PubMed PMID: 3408121.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Cutaneous signs of Noonan's syndrome. Apropos of a case with ulerythema ophyogenes, disseminated pilar and sudoral keratosis and progressive alopecia]. AU - Grob,J J, AU - Laure,M, AU - Berge,G, AU - Taramasco,M, AU - Bore,P, AU - Benderitter,T, AU - Andrac,L, AU - Collet,A M, AU - Bonerandi,J J, PY - 1988/1/1/pubmed PY - 1988/1/1/medline PY - 1988/1/1/entrez SP - 303 EP - 10 JF - Annales de dermatologie et de venereologie JO - Ann Dermatol Venereol VL - 115 IS - 3 N2 - A case of typical Noonan syndrome (NS) with eye abnormalities, pterygium colli, cryptorchid testes, lymphoedema and asymmetrical cardiac septal hypertrophy is reported in a 8-month old infant. This case was particularly interesting since it included skin manifestations which enabled an early diagnosis to be made. Ulerythema ophryogenes has already been proposed as a cutaneous marker of NS, but the keratinization disorders in our patient also included disseminated keratosis of both hair follicles and sweat glands orifices. Abnormally brittle short curly hair has already been reported, but our patient exhibited progressive alopecia which is very rare in NS. Biochemical hair analysis did not show any abnormalities of aminoacids. All these features were suggestive of keratosis follicularis spinulosa decalvans. It therefore seems very likely that NS is associated with keratinization disorders but ulerythema ophryogenes might only be the limited form of these disorders. The other skin manifestations of NS are reviewed. Since the patient had 4 "café au lait" spots, the relation of NS with Von Recklinghausen syndrome, and neurofibromatosis-Noonan syndrome is discussed. Watson's Leopard and cardio-facial syndromes overlap with, and may represent subsets of NS. SN - 0151-9638 UR - https://www.unboundmedicine.com/medline/citation/3408121/[Cutaneous_signs_of_Noonan's_syndrome__Apropos_of_a_case_with_ulerythema_ophyogenes_disseminated_pilar_and_sudoral_keratosis_and_progressive_alopecia]_ L2 - https://medlineplus.gov/skinconditions.html DB - PRIME DP - Unbound Medicine ER -