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PubMed2002

Kabuki syndrome: a review study of three hundred patients.

The Kabuki (make-up) syndrome identified in 1981 has been reported in more than three hundred patients. Typical findings include mild to moderate mental retardation, fetal pads, cleft palate, and characteristic facies with long palpebral fissures, everted lower lateral eyelids and arched eyebrows. Postnatal growth retardation, skeletal and visceral anomalies are present in a large percentage of patients. We review here the characteristics of this peculiar syndrome in three hundred patients.

Abnormalities, Multiple↗

PubMed2006

Malpuech syndrome: facial features in the absence of clefting.

We present a girl with Malpuech syndrome. In addition to the typical features of intrauterine growth retardation, facial dysmorphism, caudal appendage and patent ductus arteriosis, she has an unusual eyebrow pattern with a lateral flare.

Abnormalities, Multiple↗

PubMed2007

An alternative approach to brow lift fixation: temporoparietalis fascia, galeal, and periosteal imbrication.

BACKGROUND: Brow elevation is one of the goals of surgical rejuvenation procedures. In this article, the authors evaluate the results of a frontotemporal suspension-fixation technique by means of temporoparietalis fascia/galeal/periosteal flap imbrication through an open or endoscopically assisted approach. METHODS: A total of 32 female patients aged between 44 and 72 years were operated on under local anesthesia and sedation. In 23 cases, the frontotemporal lift was associated with a cervicofacial lift through separate incisions and in 19 with an upper/lower blepharoplasty performed at the same time or subsequently. The open approach was used in 26 cases and a combined approach with endoscopic assistance and reduced temporal incisions was used in six cases. Preoperative and postoperative measurements were taken between the lower hairline of the eyebrow and the medial and lateral canthal angles. RESULTS: Lateral brow elevation ranged from 3 to 7 mm, with an average of 5 mm. A lasting result was observed during the follow-up period, with partial relapse in five cases. Complications consisted of two transient frontal paresthesias, remarkable periorbital bruising in four cases, and a transient decrease in temporal hair density in six cases (6 to 8 months). No permanent alopecia was observed. CONCLUSIONS: Brow elevation is an essential feature for a pleasing aesthetic result in the periorbital region. The best results are those achieved in association with blepharoplasty. This technique produces stable results, and the incidence of sequelae and complications is acceptable.

Adult↗

PubMed2006

An alternative fixation technique for the endoscopic brow lift.

BACKGROUND: Endoscopic brow lift has become widely accepted as a procedure for restoring a youthful brow, since only 3 hardly noticeable incisions of the scalp are needed for this subperiosteal dissection and final repositioning of the brow. It has become an acceptable technique, an alternative to the conventional technique or transcoronal browpexy. One of the controversial points is the fixation of the flap in the elevated position. METHOD: Endoscopic brow lift allows separation and repositioning of the periosteum of the orbital rims and zygomaxilla. In a 6-year period from September 1999, 300 patients underwent endoscopic brow lift using our fixation approach, which was accomplished with an absorbable suture subperiosteally. RESULTS: Satisfactory forehead rejuvenation was obtained in all patients, with correct eyebrow movement. CONCLUSIONS: Long-term results of 6 years confirm the strength and durability of this fixation approach. We consider this approach to be a simple, secure, and reliable forehead fixation method, an alternative to other fixation methods, that allows satisfactory and long-lasting cosmetic results.

Blepharoptosis↗

PubMed1984

Pathogenesis in trichorrhexis invaginata (bamboo hair).

The mechanism of formation of trichorrhexis invaginata, which is one of the characteristic hair anomalies seen in Netherton's syndrome, was studied using plucked hairs obtained from 3 patients with the typical clinical features. The biopsy specimens used to examine the hair root were obtained from the scalp of one of the patients and the eyebrow area of the other. The scanning electron microscopic observation of plucked hairs showed trichorrhexis invaginata, tortion nodule, pili torti, and trichorrhexis nodosa. The light microscopic sections of nodules of plucked hairs revealed invaginated hair cuticle into the cortex. Transmission electron microscopy revealed cleavages and electron-dense depositions in the cortex of plucked hair nodules; such changes were not seen in newly formed nodules in follicles in biopsy specimens. In the keratogenous zone, a zigzag pattern of cortical fibers and invaginations of hair cuticle cells into the cortex were observed. Histochemical staining for -SH groups and S-S linkages using N-(7-dimethylamino-4-methyl-3-coumarinyl)maleimide (DACM) was performed on frozen sections of plucked hairs from patients and normal controls. Keratinized cortical cells of patients possessed more -SH groups than the controls and a strong fluorescence for -SH was sometimes seen in the cortex of nodules. It is concluded that the invagination of affected hairs is caused by softness of the cortex in the keratogenous zone, which may result from an incomplete conversion from -SH to S-S in proteins in cortical fibers.

Adult↗

PubMed1997

Detection of human papillomavirus DNA in plucked hairs from renal transplant recipients and healthy volunteers.

We have previously detected a group of human papillomaviruses originally found in skin lesions of epidermodysplasia verruciformis (EV) patients in skin cancers from renal transplant recipients and from non-immunosuppressed patients. The reservoir of EV-HPVs is still unknown. In the current study we investigated whether EV-HPV DNA can be detected in plucked hairs from renal transplant recipients and healthy volunteers. Hairs were plucked from eyebrows, scalp, arms, and/or legs and DNA was subsequently isolated. To detect EV-HPV, we used nested PCR with degenerate primers located in the HPV L1 open reading frame. HPV DNA was detected in hairs from one or more sites in all 26 renal transplant recipients tested. Forty-five of 49 samples (92%) from these 26 patients were positive. The HPV type was successfully determined by sequencing in 38 samples, and all types belonged to the EV-HPVs. In ten of 22 healthy volunteers (45%), EV-HPV DNA was also detected in hairs from one or more sites. Twenty of 38 samples (53%) were positive, of which 17 samples were typed as EV-HPV types. These findings indicate that EV-HPV is subclinically present in the skin of the general population. Immunosuppression may lead to activation of the virus, explaining the finding that the apparent prevalence of EV-HPV in plucked hairs from renal transplant patients is higher than in those from the volunteers. If a dose-response situation exists for the carcinogenic potential of HPV infection, this finding may be relevant to the increased risk of skin cancer in this group of patients.

Arm↗

PubMed2002

Perforating pilomatricoma: transepithelial elimination or not.

We present a 56-year-old woman with a perforating pilomatricoma in the left eyebrow region. Histologically, the tumor consisted mainly of basophilic cells and shadow cells, and the tumor components were being eliminated through an ulcer with damage to the epithelial structures. In past reports of perforating pilomatricoma, this elimination pattern has often been described as transepithelial elimination. In many patients with perforating pilomatricoma, elimination is accompanied by ulceration and epithelial damage. Mehregan recently stated that elimination accompanied by epidermal necrosis and superficial ulceration constituted one form of transepithelial elimination. Epidermal necrosis and ulceration generally constitute severe damage. However, when Mehregan first proposed the concept of transepithelial elimination, it was defined as a phenomenon with relatively little or no damage to the epithelial structures, differentiating it from other types of elimination. This original definition makes transepithelial elimination a unique and interesting phenomenon, and its most important feature is that there is relatively little or no damage to the epithelial structures. Therefore, the terms "epidermal necrosis" and "ulceration" should not be used in association with transepithelial elimination. Hence, in patients with perforating pilomatricoma, the elimination of tumor components from ulcers with damage to the epithelial structures, as seen in the present case, should not be described as transepithelial elimination.

Biopsy, Needle↗

PubMed2003

Dilated pore: a case report and an immunohistochemical study of cytokeratin expression.

We report a 71-year-old Japanese female with a dilated pore in the form of a nodule above her right eyebrow. Histologic examination revealed a flask-shaped, keratinous cystic structure that was continuous with the surface epidermis and had numerous elongated rete ridges in the lower portion. An immunohistochemical study using a panel of monoclonal antibodies against cytokeratins (CKs) and involucrin detected CK1 and CK10 in the suprabasal cells of the cystic structure. CK8 and CK19 expression was observed in the outermost layer of some elongated rete ridges; it was composed of pallisading columnar cells. Most parts of the outermost layer of the cystic structure stained positively with AE1 antibody. From these immunohistochemical findings, we speculated that the dilated pore in our case was an isolated clinical entity is a follicular tumor differentiating mainly toward the infundibulum and partly toward the isthmus.

Aged↗

PubMed1994

Evidence for genetic homogeneity of Setleis' syndrome and focal facial dermal dysplasia.

A healthy 14-month-old boy had multiple, circular, scar-like depressions on both temples, which had been present since birth. Delivery had been normal, and had not required the use of forceps or other instruments. His mother and one sister had similar, but less obvious, lesions on the temples. The three affected family members had similar facial features, with laterally deficient eyebrows, and a prominent upper lip with down-turned mouth. Additional features in the baby were sparse lower eyelashes, medial epicanthal folds, and skin dimpling on one side of the chin. Focal facial dermal dysplasia (FFDD) denotes a condition in which there are bitemporal, round, scar-like lesions. It is inherited as an autosomal dominant trait with variable penetrance and expressivity, and there are no associated features. Setleis' syndrome is recessively inherited, and is characterized by similar bitemporal defects associated with other dysmorphic features, including deficient eyelashes and a prominent upper lip. This report of dominantly inherited bitemporal dermal defects with characteristic facies supports the idea that FFDD and Setleis' syndrome are a single disorder.

Adult↗

PubMed2006

Chronic lymphocytic leukaemia skin infiltrates affecting prominent parts of the face and the scalp.

Chronic lymphocytic leukaemia (CLL) infiltrating the skin is uncommon and can present in different forms. We report a case of CLL infiltrating the prominent parts of the face and the scalp. A 63-year-old male with a 10-year history of CLL presented with plum-coloured swelling of the skin of the ears, eyebrows, tip of the nose and the scalp. Histopathology showed dense sheets of lymphoid infiltrate of the dermis which stained positive with B-cell markers CD20 and CD5 in keeping with the infiltrate of CLL.

Eyebrows↗

PubMed2005

Keratosis follicularis spinulosa decalvans and acne keloidalis nuchae.

A 27-year-old man presented with a 10-year history of scarring alopecia on the vertex of the scalp associated with follicular crusting and pustule formation, and a papular eruption on the posterior neck. Additionally, there was keratosis pilaris on the cheeks, eyebrows and thighs. Histology from the vertex showed scarring with a mixed perifollicular inflammatory infiltrate and foci of acute suppurative folliculitis. With clinical correlation, the diagnosis of keratosis follicularis spinulosa decalvans and concurrent acne keloidalis nuchae was made. The association of keratosis follicularis spinulosa decalvans with acne keloidalis nuchae has not previously been described. The patient responded to treatment with oral isotretinoin 20 mg (0.25 mg/kg) daily for 12 months.

Acne Keloid↗

PubMed2006

Primary cutaneous mucinous carcinoma: report of two cases treated with Mohs' micrographic surgery.

We present a 72-year-old woman who presented with a slowly enlarging, asymptomatic, cystic nodule on the right eyebrow, and a 66-year-old woman who had a reddish, nodular lesion on the left lower eyelid. Incisional biopsy from the two neoplasms showed dermal epithelial cell islands embedded in mucin pools. Tumour cells stained positive for cytokeratin 7, oestrogen and progesterone receptors, and negative for vimentin and S-100 protein. These findings were consistent with a diagnosis of mucinous carcinoma. Extensive work-ups excluded cutaneous metastases from primary visceral mucinous carcinomas. To ensure complete tumour removal, both patients underwent Mohs' micrographic surgery (standard fresh-frozen technique). They remain disease-free 42 and 26 months after surgical excision, respectively. Mohs' micrographic surgery appears to be a rational and effective treatment for this uncommon malignancy.

Adenocarcinoma, Mucinous↗

PubMed2005

Frontal fibrosing alopecia: a survey in 16 patients.

BACKGROUND: Postmenopausal frontal fibrosing alopecia (PFFA) was described by Kossard et al. as a progressive recession of the frontal hairline affecting particularly postmenopausal women. Further cases of PFFA have been reported to date, all of them considering it as a variant of lichen planopilaris on the basis of its clinical, histological and immunohistochemical features. OBJECTIVE: To describe clinical features, and response to treatment of 16 cases of frontal fibrosing alopecia diagnosed at our department in the last 6 years. METHODS: In addition to clinical data, biopsies and laboratory tests (antinuclear antibodies, sex hormones, thyroid hormones) were performed in order to rule out other causes of scarring alopecia. Patients were treated with intralesional corticosteroids, finasteride, and minoxidil, depending on the stage of the disease and association to androgenetic alopecia. RESULTS: All patients presented progressive alopecia localized to the frontal and temporal hairlines. Eight patients (50%) had loss of eyebrows, and six patients (37.5%) had axillar alopecia. Ages ranged from 45 to 79. Three of these women were premenopausal. Androgenetic alopecia was evident in seven patients (43.8%). All patients biopsied showed perifollicular lymphocitic infiltrate with lamelar fibrosis limited to the upper portions of the follicle. The progression of the condition stopped in most patients after a variable period on treatment. When treatment was abandoned the alopecia progressed to 'clown alopecia' appearance. DISCUSSION: Cases of Kossard's type scarring alopecia affecting premenopausal women made us consider that this condition is not exclusive of postmenopausal women. Differential diagnosis should take into account conditions like female androgenetic alopecia, fibrosing alopecia in a pattern distribution, alopecia areata, and chronic lupus erythematosus. Except for the pattern of alopecia, lichen planopilaris and frontal fibrosing alopecia are indistinguishable, thus the latter is included as a variant of lichen planopilaris. Although the disease tends to spontaneous stabilization, intralesional and topical corticosteroids, and anti-androgens may stop the progression of the disease and improve the female androgenetic alopecia that usually is associated to FFA.

Aged↗

PubMed1991

Periorbital reconstruction.

Reconstructions of the lower lid, the upper lid, the medial canthus, the infraorbital area, and the eyebrow area are reviewed. Various flap procedures are described.

Eyebrows↗

PubMed1994

Ulerythema ophryogenes and keratosis pilaris in a child with monosomy 18p.

We report a 13-year-old boy with deletion of the short arm of chromosome 18 and follicular, partially inflammatory, keratotic papules of the eyebrows, foreskin, and cheeks (ulerythema ophryogenes) as well as the shoulders, upper back, upper arms, and thighs (keratosis pilaris), initially diagnosed as atopic dermatitis. Over 100 patients with this genetic defect have been reported, and the 18p- syndrome is considered one of the most frequently occurring deletion syndromes. However, ulerythema ophryogenes and keratosis pilaris have not been described in any of these patients, although the association of the latter with other genetic abnormalities is well known. Keratosis pilaris is a relatively common genodermatosis of ectodermal origin, frequently occurring with ichthyosis or atopy; concomitance with ulerythema ophryogenes has also been reported. The association of chromosome 18p deletion defect and ulerythema ophryogenes may be helpful in future attempts to localize the gene defect responsible for follicular genokeratoses.

Child↗

PubMed1991

Ablepharon macrostomia syndrome.

The association of congenital ablepharon with the absence of eyelashes and eyebrows, a wide mouth (macrostomia), and auricular, nasal, genital, and other systemic anomalies has been termed the ablepharon macrostomia syndrome. One such case is reported which illustrates the importance of immediate postnatal ocular management to minimise severe visual loss.

Abnormalities, Multiple↗

PubMed2004

Video illustration of staple gun use to rapidly repair on-field head laceration.

A professional rugby league player sustained a left eyebrow laceration during a match which immediately started to bleed. Within seconds he was taken to the sideline and had the laceration closed with six staples by the team doctor. Bleeding was arrested and he returned to play, taking the ball within 80 s of suffering the initial laceration, and within 40 s of the stapling procedure. This sequence was captured on video and appeared on television. The staples were removed after the match and the wound sutured. Repair of the wound was uneventful. The staple gun allows bleeding lacerations to be closed within seconds and for players to safely and quickly return to play, whilst minimising the risk of blood-borne infection transmission.

Craniocerebral Trauma↗

PubMed2000

Renbök phenomenon in alopecia areata.

We present a second case of alopecia areata sparing a congenital nevus of the eyebrow. This inverse counterpart of perinevoid alopecia is discussed and placed in context to the recently described Renbök phenomenon. According to the present definition of a nevus as a genetic mosaic, a genetically determined resistance to alopecia areata is suggested in our case.

Adolescent↗