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Neva E. Haites - One of the best experts on this subject based on the ideXlab platform.

  • A Scottish family with Bazex-Dupré-Christol syndrome: follicular Atrophoderma, congenital hypotrichosis, and basal cell carcinoma.
    Journal of medical genetics, 1996
    Co-Authors: A. Kidd, L. Carson, D. W. Gregory, Deepthi De Silva, J. Holmes, John Dean, Neva E. Haites
    Abstract:

    Bazex-Dupre-Christol syndrome (BDCS) is an X linked dominant disorder of the hair follicle characterised by follicular Atrophoderma, multiple basal cell carcinomas, hypotrichosis, milia, and localised hypohidrosis. Follicular Atrophoderma (FA) are follicular funnel shaped depressions, "ice pick marks", seen most commonly on the dorsum of the hands. We describe the first known Scottish family with this syndrome, five affected members spanning three generations. They have hypohidrosis confined to the face, coarse hair, dry skin, milia, and follicular Atrophoderma. All the adults have a history of multiple basal cell carcinomas. None of them has any skeletal feature suggestive of Gorlin's syndrome. The clinical features, skin histology, and scanning electron microscopic (SEM) examination of the hair are described and illustrated. The features are compared with 15 previous reports of BDCS and four reports in which this is a possible diagnosis are also reviewed. BDCS should be considered as a differential diagnosis in patients with early onset or familial basal cell carcinomas.

Anthony Nikko - One of the best experts on this subject based on the ideXlab platform.

Rudolf Happle - One of the best experts on this subject based on the ideXlab platform.

  • linear Atrophoderma of moulin postulation of mosaicism for a predisposing gene
    Journal of The American Academy of Dermatology, 2003
    Co-Authors: Retno Danarti, Rudolf Happle, Mario Bittar, Arne Konig
    Abstract:

    Hyperpigmented Atrophoderma arranged in a pattern following the lines of Blaschko and appearing during childhood or adolescence on the trunk or the limbs is a characteristic feature of linear Atrophoderma of Moulin. We review 15 published reports and describe 4 additional cases. Histopathologically, there is no clear sign of atrophy found in specimens examined by light microscopy. It might well be argued that a focal reduction of subcutaneous fatty tissue contributes to the obvious clinical atrophy. The cause and pathogenesis of the disorder remains unknown. It may reflect mosaicism caused by a postzygotic mutation that occurred at an early developmental stage, in analogy to many other diseases distributed along Blaschko's lines. Linear Atrophoderma of Moulin may reflect the action of an autosomal lethal gene surviving by mosaicism. There are so far no reports of a familial occurrence that could favor a paradominant transmission of linear Atrophoderma of Moulin. However, theoretically, the postzygotic mutation giving rise to an aberrant cell clone could still be nonlethal. In a heterozygous individual, a postzygotic mutational event might lead to loss of the corresponding wild-type allele at the Atrophoderma locus. This would give rise to a homozygous cell clone, which becomes manifest along the lines of Blaschko later in life.

  • linear Atrophoderma of moulin
    European Journal of Dermatology, 2000
    Co-Authors: Rainer Rompel, Astrid Laura Mischke, Cord Langner, Rudolf Happle
    Abstract:

    Linear Atrophoderma of Moulin is a rare entity first described by Moulin in 1992 [1]. It is characterized by asymptomatic hyperpigmented atrophic band-like lesions localized mostly on the trunk and following the lines of Blaschko. Baumann et al. [2] suggested the term "linear Atrophoderma of Moulin" for these band-like scleroderma-like skin lesions that do not show a preceding inflammation or induration. They categorized this disease as [...]

  • Congenital ichthyosis, follicular Atrophoderma, hypotrichosis, and hypohidrosis: A new genodermatosis?
    American journal of medical genetics, 1998
    Co-Authors: Gilles G. Lestringant, Wolfgang Küster, Philippe M. Frossard, Rudolf Happle
    Abstract:

    Follicular Atrophoderma is a rare anomaly observed mainly in the X-dominant form of chondrodysplasia punctata (Conradi-Hunermann-Happle syndrome) and in the X-linked dominant Bazex syndrome. We report on five Emirati sibs (three girls and two boys), 4–18 years old, with normal stature, diffuse congenital ichthyosis, patchy follicular Atrophoderma, generalized and diffuse non-scarring hypotrichosis, and marked hypohidrosis. Steroid sulfatase activity, assessed in the two boys, was found to be normal. Electron microscopic studies of ichthyotic skin did not show any specific abnormality. The association of congenital diffuse ichthyosis with follicular Atrophoderma and hypotrichosis has not been reported before. The patients were reminiscent of Bazex syndrome; however, ichthyosis is not a component of Bazex syndrome. We conclude that this syndrome of congenital ichthyosis with follicular Atrophoderma represents a new autosomal recessive genodermatosis. Am. J. Med. Genet. 75:186–189, 1998. © 1998 Wiley-Liss, Inc.

A. Kidd - One of the best experts on this subject based on the ideXlab platform.

  • A Scottish family with Bazex-Dupré-Christol syndrome: follicular Atrophoderma, congenital hypotrichosis, and basal cell carcinoma.
    Journal of medical genetics, 1996
    Co-Authors: A. Kidd, L. Carson, D. W. Gregory, Deepthi De Silva, J. Holmes, John Dean, Neva E. Haites
    Abstract:

    Bazex-Dupre-Christol syndrome (BDCS) is an X linked dominant disorder of the hair follicle characterised by follicular Atrophoderma, multiple basal cell carcinomas, hypotrichosis, milia, and localised hypohidrosis. Follicular Atrophoderma (FA) are follicular funnel shaped depressions, "ice pick marks", seen most commonly on the dorsum of the hands. We describe the first known Scottish family with this syndrome, five affected members spanning three generations. They have hypohidrosis confined to the face, coarse hair, dry skin, milia, and follicular Atrophoderma. All the adults have a history of multiple basal cell carcinomas. None of them has any skeletal feature suggestive of Gorlin's syndrome. The clinical features, skin histology, and scanning electron microscopic (SEM) examination of the hair are described and illustrated. The features are compared with 15 previous reports of BDCS and four reports in which this is a possible diagnosis are also reviewed. BDCS should be considered as a differential diagnosis in patients with early onset or familial basal cell carcinomas.

M Johno - One of the best experts on this subject based on the ideXlab platform.

  • hereditary perioral pigmented follicular Atrophoderma associated with milia and epidermoid cysts
    British Journal of Dermatology, 1998
    Co-Authors: Y Inoue, Tomomichi Ono, K Kayashima, M Johno
    Abstract:

    Eight members of a single family all presented the characteristic changes of facial, especially perioral, pigmented follicular Atrophoderma, with numerous milia and epidermoid cysts. For this condition. diagnosis at a glance may be possible because of the perioral cutaneous manifestations. Histopathological examination of follicular Atrophoderma revealed proliferation of basaloid cells continuous with the epidermis and coarse collagen fibres, with a decreased density of elastic fibres around the basaloid cells. Two of the eight individuals also showed generalized hypohidrosis. The eight affected persons were the proband, her son, mother, uncle, two younger sisters, cousin and nephew: an autosomal dominant mode of transmission was suggested from this family tree. The patients' symptoms resembled those of Bazex-Dupre-Christol syndrome, except for the different distribution of the follicular Atrophoderma and the absence of basal cell carcinoma and hypotrichosis. This disease may be an entirely new syndrome characterized by perioral pigmented follicular Atrophoderma associated with milia and epidermoid cysts.