DermKnowledgeBASE: Bazex dupr christol Syndrome

Bazex dupr christol Syndrome

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The text is the summary of recent articles on Bazex dupr christol Syndrome at 75 thresold from National Library of Medicine (NLM). This information is subject to NCBI's Disclaimer and Copyright notice.


Her 8 year old brother had Multiple milia and follicular atrophoderma [1]. The BDCS phenotype in this family was characterized by hypotrichosis, atrophoderma follicularis, milia, and trichoepitheliomas [2]. The dermatologic manifestations may precede clinically evident GI disease [3]. Part I of this 2-part CME review focuses on dermatologic findings as they relate to hereditary and nonhereditary polyposis disorders and paraneoplastic disorders [4]. We present the case of a patient with a newly diagnosed pyriform sinus tumour and associated acrokeratosis paraneoplastica [5].

Currently, hypotrichosis, follicular atrophoderma and basal cell carcinomas are considered frequent symptoms of the disorder whereas milia are supposed to reflect infrequent clinical signs [6]. His 16-year-old mother had identical changes since childhood, with Hair fragility, and Multiple Atrophic "ice pick" follicular depressions on the Dorsa of her Hands [7]. Dermatological examination of the father showed Atrophic cutaneous lesions with follicular punctuated depressions (like "ice-pick marks") on the back of the Hands and the Forearms [8]. The maternal grandfather had spontaneously regressive typical follicular atrophodermia involving the back and the Hands and also had several milium grains and several basocellular carcinomas [9]. Conspicuous accompanying symptoms were Multiple Periorbital milia, hypotrichosis of the body and the Scalp, and hypohidrosis [10].

Diagnosis at a glance may be possible because of the perioral cutaneous manifestations [11]. 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 [12]. Two of the eight individuals also showed Generalized hypohidrosis [13]. Follicular atrophoderma (FA) are follicular funnel shaped depressions, "ice pick marks", seen most commonly on the Dorsum of the Hands [14]. They have hypohidrosis confined to the Face, coarse Hair, dry skin, milia, and follicular atrophoderma [15].

The most striking difference between male and Female subjects is provided by hypotrichosis [16]. In male subjects, hypotrichosis is Diffuse and affects all Scalp hairs [17]. On the other Hand, female subjects do not have hypotrichosis, but normal hairs are intermingled with abnormal hairs [18]. Moreover, further evidence of an X-linked Dominant mode of Inheritance could be derived from the observation of gender differences that can be attributed to the lyonization phenomenon in Female subjects [19]. A one-month-old girl, with hypotrichosis and pseudo pili torti, and her 29-year-old father, with hypotrichosis and dorsal follicular atrophoderma of the Hands [20].

Four brothers, Adult men aged 43 to 55 years initially presented only dorsal follicular atrophoderma the Hands and face, hypotrichosis and numerous basal cell carcinomas of the Face, especially in palpebral, Temporal, Nasal and Forehead sites [21]. Examination of the skin showed numerous milia on the Face, a small lenticular polycystic Lesion on the right Ear, follicular atrophodermia on the back of the Hands and hypotrichosis of the Face [22].

References: 1 , 2 , 3 , 4 , 5 , 6 , 7 , 8 , 9 , 10 , 11 , 12 , 13 , 14 , 15 , 16 , 17 , 18 , 19 , 20 , 21 , 22 ,

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