Hypertrichose diffuse révélant une hyperplasie congénitale des surrénales de forme non classique

BACKGROUND: Non-classical congenital adrenal hyperplasia (NC-CAH) is a recessive autosomal disease caused by a deficiency of adrenal steroidogenesis enzymes. It must be distinguished from classical CAH, either simple virilising or salt-wasting, diagnosed during the neonatal period and responsible for potentially lethal disorders of sexual differentiation. NC-CAH presents a simpler and less specific clinical picture. Herein, we present two cases comprising twin girls consulting for diffuse hypertrichosis. PATIENTS AND METHODS: Two 5-year-old twin girls were seen at our consultation for increased pilosity on all four limbs, but with no facial pilosity or synophrys, as well as comedones on the chin. Their height and weight and psychomotor development was normal, with no signs of precocious puberty and no clitoral hypertrophy. Levels of 17OH-P and SDHA were high, while FSH and LH were low and IGF1 and TSH were normal. Analysis of gene CYP21 associated with NC-CAH showed mutations p.V281L and IVS2-13A/C>G. Mutation p.V281L was present in the heterozygous state in the older sister and the father, together with moderate hyperpilosity but without hirsutism or acne. No mutations were found in the mother, indicating either de novo appearance of mutation IVS2-13A/C>G in the twins or germline mosaicism in the mother. DISCUSSION: We diagnosed NC-CAH as the cause of diffuse hypertrichosis in these twins. This disease is not rare, with a prevalence of 1/1000 to 1500 among peoples of European descent. It is often diagnosed late since routine neonatal screening is not performed. In some cases, NC-CAH remains asymptomatic. The appearance of pubic hair at around 5 to 7 years is the initial reason for consultation, particularly with a dermatologist. Hyperandrogenism varies, involving hirsutism, acne, fertility disorders and premature ageing of bone. Cortisol and aldosterone levels are generally normal. The risk of acute adrenal insufficiency is extremely low. Differential diagnosis concerns ovarian or adrenal tumors and polycystic ovary syndrome. 21-OH deficiency results in defective cortisol and aldosterone synthesis, and thus in raised ACTH, leading to increased adrenal androgen secretion. The early appearance of secondary sexual characteristics is associated with a gradual accumulation of 17-OHP. Depending on severity, hydrocortisone or anti-androgens may be given, or where treatment fails, aesthetic measures such as epilation or hair discolouration may be performed. CONCLUSION: In children presenting NC-CAH, the appearance of pubic hair and hirsutism often constitute the initial reasons for consultation, including with dermatologists. However, hypertrichosis may occur in isolation. It is important that these abnormalities be clearly known to enable early diagnosis and rapid initiation of simple and readily accessible treatment

Modular Evolution and the Origins of Symmetry: Reconstruction of a Three-Fold Symmetric Globular Protein

SummaryThe high frequency of internal structural symmetry in common protein folds is presumed to reflect their evolutionary origins from the repetition and fusion of ancient peptide modules, but little is known about the primary sequence and physical determinants of this process. Unexpectedly, a sequence and structural analysis of symmetric subdomain modules within an abundant and ancient globular fold, the β-trefoil, reveals that modular evolution is not simply a relic of the ancient past, but is an ongoing and recurring mechanism for regenerating symmetry, having occurred independently in numerous existing β-trefoil proteins. We performed a computational reconstruction of a β-trefoil subdomain module and repeated it to form a newly three-fold symmetric globular protein, ThreeFoil. In addition to its near perfect structural identity between symmetric modules, ThreeFoil is highly soluble, performs multivalent carbohydrate binding, and has remarkably high thermal stability. These findings have far-reaching implications for understanding the evolution and design of proteins via subdomain modules

Skin alterations in pseudoxanthoma elasticum patients highlighted by the bi-dimensional sample entropy algorithm

BACKGROUND: Pseudoxanthoma elasticum (PXE) is a hereditary disease that manifests - among others - with papular lesions on the skin. The presence of these papules is the earliest sign of the pathology. Their detection is therefore of importance but, due to their small size, this can become a difficult task. This is why dermoscopy, a noninvasive imaging modality, may be of interest. Nevertheless, the detection of papules on dermoscopic images is still a challenge. OBJECTIVE: We propose an image processing framework to help in the detection of papules from dermoscopic images. Our algorithm is based on the recently-proposed bi-dimensional sample entropy. METHODS: Seven PXE patients participated to the study. For each of them, one dermoscopic image of the neck (where the papules are predominant), and one dermoscopic image of a normal skin zone have been recorded. For each one, the bi-dimensional sample entropy has been computed. RESULTS: We observed statistically significantly lower bi-dimensional sample entropy values on the dermoscopic images of the neck than on the dermoscopic images of the normal zone. CONCLUSION: These preliminary findings show that the bi-dimensional sample entropy might be of interest for the diagnosis and follow-up of the PXE pathology

Dermoscopic phenotype of pseudoxanthoma elasticum skin lesions: a study of 16 patients

International audienc

Visiones de fin de siglo

La presente publicación concentra los trabajos presentados por investigadores nacionales y extranjeros en el "Il Encuentro Internacional de Historia. El siglo XX en Bolivia y América Latina. Visiones de fin de siglo", que se realizó en la ciudad de Cochabamba entre el 27 y el 31 de julio de 1998. El encuentro fue organizado por la "Coordinadora de Historia. Investigadores Asociados" y contó con el auspicio del Centro Cultural Portales con sede en esa ciudad, así como con el apoyo de las siguientes instituciones: Facultad de Humanidades de la Universidad Mayor de San Andrés de La Paz, Plural Editores, Anden Silver Corporation, Embajada de México, Lloyl Aéreo Boliviano, Compañía Industrial de Tabacos S.A., Banco Mercantil y La Estrella. La Coordinadora de Historia, que reúne a más de 20 historiadores/as bolivianos/as, desarrolló en 1994 un encuentro similar sobre el siglo XIX en la ciudad de Sucre. Las actas del mismo, al que asistieron renombrados historiadores de Europa, Estados Unidos, Latinoamérica y Bolivia, ya han sido publicadas. En esta oportunidad, 48 expositores abordaron las siguientes temáticas planteadas por los organizadores del Congreso: - Archivos documentales bolivianos del siglo XX. - Proyectos y modelos de sociedad en Bolivia. - Estructuras y practicas políticas en Bolivia y America Latina. - Proyectos, estructuras y modelos económicos en Bolivia y América Latina. - Movimientos, actores y estructuras sociales en Bolivia y America Latina. - Culturas hegemónicas y contraculturas en Bolivia y America Latina. Diez de ellos, Horacio Cerruti, Francisco Zapata, Antonio García de Léon, Antonio Mitre, Melvin Burke, H.C.F, Mansilla, Janvier Sanjinés, Jorge Lazarte, René Antonio Mayorga y Gonzalo Sánchez de Lozada, estuvieron encargados de desarrollar "ponencias magistrales", las que se caracterizaron por intentar visiones más globales o de síntesis sobre las temáticas generales trabajadas en cada una de las jornadas. El encuentro sobre el siglo XX, tuvo la particularidad de reunir a especialistas nacionales extranjeros de distintas disciplinas de las ciencias sociales y humanas como historiadores, sociólogos, antropólogos, economistas y literatos, con el objetivo de lograr el intercambio de visiones y perspectivas de análisis bajo una óptica multirdisciplinaria. Ello permitió romper barreras entre las disciplinas que muchas veces son resultado de prejuicos y celos y desarrollar un rico y creativo débale que muy pocas yeces se realiza en nuestro medio