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J Invest Dermatol. 2002 Sep;119(3):692-8.
Refined mapping of Naegeli-Franceschetti- Jadassohn syndrome to a 6 cM interval on chromosome 17q11.2-q21 and investigation of candidate genes.

Sprecher E, Itin P, Whittock NV, McGrath JA, Meyer R, DiGiovanna JJ, Bale SJ, Uitto J, Richard G.

Department of Dermatology and Cutaneous Biology and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA.

Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis are autosomal dominant ectodermal dysplasias characterized by the absence of dermatoglyphics, reticulate hyper pigmentation of the skin, hypohidrosis, and heat intolerance. Palmoplantar keratoderma, nail dystrophy, and enamel defects are common in Naegeli-Franceschetti-Jadassohn syndrome, whereas diffuse alopecia is only seen in dermatopathia pigmentosa reticularis. We studied a large Swiss family with Naegeli-Franceschetti-Jadassohn syndrome originally described by Naegeli in 1927 and assessed linkage to chromosome 17q, which was proposed to harbor the Naegeli-Franceschetti-Jadassohn syndrome gene. Our results considerably narrow the Naegeli-Franceschetti-Jadassohn syndrome gene region from 27 cM to 6 cM flanked by D17S933 and D17S934 with a maximum multipoint LOD score of 2.7 at marker locus D17S800. In addition, we studied a small family with dermatopathia pigmentosa reticularis, and our linkage data suggest that dermatopathia pigmentosa reticularis may map to the same chromosomal region. The Naegeli-Franceschetti-Jadassohn syndrome critical interval spans approximately 5.4 Mb and contains a minimum of 45 distinct genes. We scrutinized 13 new prime candidates in addition to five genes previously examined, established the genomic organization of 10 of these genes, and excluded all of them by mutation analysis. Moreover, we identified a cDNA (KRT24) encoding a new keratin protein that bears high similarity to the type I keratins and displays a unique expression profile. No pathogenic mutations were identified in this novel gene either, however. In summary, our results substantially refine the Naegeli-Franceschetti-Jadassohn syndrome region and will aid in identifying a gene that is critical for ontogenesis of multiple ectodermal tissues.

online pharmacy ref. source: www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=12230514&dopt=Abstract

Rev Roum Endocrinol. 1969;6(4):315-9.
[Syndrome of depression and depigmentation after administration of combined estrogen-progestagens]

[Article in French]

Serban AM, Teodoru M.

PIP: A case is presented of a 38-year old woman who, when treated for alternating amenorrhea and menorrhagia with Lyndiol (.l5 mg mestranol and 5 mg lynestrenol, combined) became anxious and depressed and developed depigmentation and alopecia of her left eyebrow. She showed several symptoms of luteal insufficiency: menstrual disorders, spontaneous abortions, menometrorrhagia, and hyperplastic endometrium, a fter progestagen treatment. During a 6 month course of Lydiol she became severely depressed with short attention span, loss of memory, fatique, frigidity, obsessions and phobic behavior. Treatment with Antideprein (Tofranil) and Napoton (Librium) were not effective, but stopping Lyndiol improved the depression, frigidity, and partially improved the obsessive-phobic behavior. The disscussion centered on the role of monoamines in the depressions associated with oral contraceptives.

online pharmacy ref. source: www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=12255382&dopt=Abstract

Gyogyszereink. 1972;22:59-67.
Experiences in dermatology with various contraceptives containing gestagen.

Vankos J.

PIP: 3 types of oral contraceptives with differing amounts of progestagen content were compared for dermatotherapeutic effect in a series of 192 patients. All preparations contained .1 mg mestranol and either 2.5 mg norethynodrel (Infecundin) or 1 mg or .5 mg ethynodiol-diacetate per daily dose. The curative effect of these oral contraceptives was compared in cases of acne, seborrhea, oleosa and menstrual dermatosis. The protective effect was compared in cases of rosacea, psoriasis, prurigo, alopecia areata and chronic polymorphous photodermatitis. All 3 preparations proved to be equally effective in curing and protecting against the conditions mentioned. Infecundin was found to act more quickly than the other preparations, but the compounds with lesser amounts of gestagen caused much fewer adverse side-effects with equal contraceptive and dermatotherapeutic efficacy. This difference in side-effects may be due to the norethnodrel exerting more powerful estrogen activity in Infecundin rather than because of the difference in gestagen content.

online pharmacy ref. source: www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=12256240&dopt=Abstract

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