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1.
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.  相似文献   

2.
《Clinics in Dermatology》2014,32(6):784-799
This paper reviews the recent literature on the diseases of the hair and pilosebaceous unit that may cause a red face. We discuss the epidemiology, clinicals, pathogenesis, and therapy of lichen planopilaris with its variants, discoid lupus erythematosus, folliculitis decalvans, dissecting folliculitis, acne keloidalis nuchae, pseudofolliculitis barbae, tinea capitis, tinea barbae, folliculitis of diverse causative factors and inflammatory follicular keratotic syndromes, ulerythema ophryogenes, atrophoderma vermiculatum, keratosis follicularis spinulosa decalvans, and folliculitis spinulosa decalvans.  相似文献   

3.
Summary Keratosis follicularis spinulosa decalvans is a rare, X-linked genodermatosis characterized by follicular hyperkeratosis, scarring alopecia of the scalp, eyebrows and eyelashes, corneal dystrophy and photophobia. We describe two cases from a large family, the first with keratosis follicularis spinulosa decalvans to be reported in the U.K.  相似文献   

4.
The case of a 2-year-old boy with keratosis follicularis spinulosa decalvans is described. On of his sisters had keratosis follicularis of the upper arms, forearms, thighs and legs as well as blepharonconjunctivitis chronica catarrhalis bilateralis and was considered as forme fruste of the anomaly. His mother had sparse eyebrows. The mode of inheritance and the Lyon hypothesis are discussed.  相似文献   

5.
Ichthyosis follicularis with alopecia and photophobia   总被引:2,自引:0,他引:2  
We treated two unrelated boys with ichthyosis follicularis, a rare skin disorder characterized by extensive noninflammatory spiny follicular hyperkeratoses, severe photophobia, and generalized noncicatricial alopecia. This disorder must be differentiated from keratosis follicularis spinulosa decalvans; ulerythema ophryogenes; keratosis pilaris rubra atrophicans faciei; atrichia with papular lesions; atrophodermia vermiculata; and keratitis, ichthyosis, and deafness syndrome, all of which share some clinical features. Ichthyosis follicularis with alopecia and photophobia appears to be a familial disorder, but too few cases have been reported to establish the exact mode of inheritance.  相似文献   

6.
Keratosis follicularis spinulosa decalvans (KFSD), is a rare follicular syndrome associated with widespread keratosis pilaris and progressive scarring alopecia. This genodermatoses often starts at infancy or early childhood with an X-linked mode of inheritance. Males are predominantly affected and females frequently show no disease or only a mild form. We describe this not so common entity of KFSD in a nine year old female child.  相似文献   

7.
The case findings in a 22-year-old male patient of keratosis follicularis spinulosa decalvans are described. In addition to the characteristic cutaneous, occular and histological features, he had striking angular stomatitis and fissuring of the tongue simulating vitamin B-complex deficiency. This is an unreported feature to our knowledge. The mode of inheritance suggested X-linked trait.  相似文献   

8.
We report two cases of keratosis follicularis spinulosa decalvans in a Caucasian family involving a 28-year-old woman and her mother. This is an unusual family in that no male relatives are similarly affected. Secondly, both patients have no significant eye changes but quite extensive scarring alopecia. To the best of our knowledge this is the second reported family in the UK.  相似文献   

9.
Keratosis follicularis spinulosa decalvans (KFSD) is a rare condition characterized by diffuse keratosis pilaris with a scarring alopecia of the scalp and associated photophobia, facial erythema, and palmoplantar keratoderma. Although initially described as a sex-linked disorder, several different inheritance patterns have been observed. We describe a patient whose father and sister were also affected with this condition, consistent with an autosomal dominant genetic transmission. Multiple topical and systemic treatments have been unsuccessful in this patient, attesting to the treatment refractoriness typically seen in KFSD.  相似文献   

10.
Keratosis follicularis spinulosa decalvans (KFSD; OMIM 308800) is an X-linked disorder characterized by widespread hyperkeratotic follicular papules (including keratosis pilaris-like lesions), facial erythema, hypotrichosis and scarring alopecia. KFSD results from mutations in the MBTPS2 gene. Mutations in this gene also underlie ichthyosis follicularis, alopecia and photophobia syndrome. We report a British pedigree with KFSD resulting from the mutation p.Asn508Ser. This particular mutation has been reported in three other pedigrees with KFSD (Dutch, American, British) and is the only pathogenic mutation reported in this disorder to date. However, the same mutation has also been reported in a Chinese pedigree with IFAP syndrome, highlighting the clinical heterogeneity and overlapping molecular pathology of these two disorders.  相似文献   

11.
Tufted folliculitis is an uncommon folliculitis of the scalp that resolves with patches of scarring alopecia within which multiple hair tufts emerge from dilated follicular orifices. The clinicohistological data from a group of 15 patients with tufted folliculitis were reviewed and compared with those of seven patients with folliculitis decalvans, five with acne keloidalis nuchae, four with dissecting cellulitis of the scalp, three with kerion celsi and 20 with follicular lichen planus. It was found that tufted folliculitis could be differentiated from folliculitis decalvans only by finding several hair tufts scattered within patches of scarring alopecia. Histologically, a single tuft consisted of peculiar clustering of adjacent follicular units opening at the bottom of an epidermal depression. Conversely, the presence of keloidal plaques in acne keloidalis nuchae, coalescing nodules discharging purulent material in dissecting cellulitis of the scalp, erythematous plaques covered by pustules replete with fungal elements in kerion celsi, and the absence of follicular pustules in follicular lichen planus distinguished these diseases from tufted folliculitis. On the basis of these findings, it is suggested that tufted folliculitis should be considered as a distinctive clinicohistological variant of folliculitis decalvans. Tufting of hair is caused by clustering of adjacent follicular units due to a fibrosing process and to retention of telogen hairs within the involved follicular units.  相似文献   

12.
Skin diseases presenting with keratotic papules, atrophy, cicatricial alopecia and/or “lichenoid” histopathologic changes have been described under at least 30 names. This family of diseases contains 2 subgroups, largely based on clinical features: keratosis pilaris atrophicans (KPA; including keratosis pilaris atrophicans faciei/ulerythema ophryogenes, atrophoderma vermiculatum, and keratosis follicularis spinulosa decalvans); and the lichen planopilaris (LPP) subgroup (including LPP, frontal fibrosing alopecia, Graham‐Little‐Piccardi‐Lassueur Syndrome and fibrosing alopecia in a pattern distribution). An interface dermatitis with lichenoid inflammation is characteristic of the LPP group of disorders, but the literature provides scant information about the histopathology of the KPA group. Our experience has been that the 2 subgroups show a unifying histologic similarity as well as considerable clinical overlap. Because these conditions overlap clinically and histologically, we propose that the term lichenoid folliculitis (LF) be used to refer to this group of diseases, thus simplifying cumbersome nomenclature and highlighting the possibility of shared pathogenesis and treatment options.  相似文献   

13.
A case of typical Noonan syndrome (NS) with eye abnormalities, pterygium colli, cryptorchid testes, lymphoedema and asymmetrical cardiac septal hypertrophy is reported in a 8-month old infant. This case was particularly interesting since it included skin manifestations which enabled an early diagnosis to be made. Ulerythema ophryogenes has already been proposed as a cutaneous marker of NS, but the keratinization disorders in our patient also included disseminated keratosis of both hair follicles and sweat glands orifices. Abnormally brittle short curly hair has already been reported, but our patient exhibited progressive alopecia which is very rare in NS. Biochemical hair analysis did not show any abnormalities of aminoacids. All these features were suggestive of keratosis follicularis spinulosa decalvans. It therefore seems very likely that NS is associated with keratinization disorders but ulerythema ophryogenes might only be the limited form of these disorders. The other skin manifestations of NS are reviewed. Since the patient had 4 "café au lait" spots, the relation of NS with Von Recklinghausen syndrome, and neurofibromatosis-Noonan syndrome is discussed. Watson's Leopard and cardio-facial syndromes overlap with, and may represent subsets of NS.  相似文献   

14.
Keratosis follicularis spinulosa decalvans (KFSD) is a genetic disorder characterized by disseminated follicular hyperkeratosis, especially localizated to scalp and face. We report the case of a new patient displaying typical features of KFSD. Ultrastructural study was performed and displayed round keratohyalin granules in follicular keratinocytes. Trial with etretinate, which has not been reported before in this disease, proved to be ineffective.  相似文献   

15.
Es wird über das sporadische Auftreten einer Keratosis follicularis spinulosa decalvans (KFSD) bei einem 4j?hrigen vietnamesischen Jungen berichtet. Das ehemals frühgeborene Kind zeigt das Vollbild einer KFSD in Kombination mit einem Naevus teleangiectaticus lateralis, persistierenden Ductus arteriosus Botalli und einer Hypospadia glandis. Diese Kombination stellt m?glicherweise ein neues Syndrom dar. Es ist die erste Beschreibung der KFSD bei einem asiatischen Patienten.  相似文献   

16.
Ichthyosis follicularis, atrichia and photophobia (IFAP) syndrome (OMIM 308205) is a rare X‐linked genetic disorder. Mutations in MBTPS2 underlie IFAP syndrome, with 19 different mutations reported to date. Keratosis follicularis spinulosa decalvans (KFSD) is an allelic disorder that results from a single recurrent mutation, p.Asn508Ser. We report a case from the UK of IFAP syndrome resulting from a new mutation, p.Asn508Thr, emphasizing the significant overlap between IFAP and KFSD at both the molecular and clinical levels. An area of alopecia on the scalp of the proband's mother was also noted, suggesting lyonization.  相似文献   

17.
Efficacy of diode laser for treating acne keloidalis nuchae   总被引:1,自引:0,他引:1  
Acne keloidalis nuchae is usually treated with oral antibiotics, local antiseptics or intralesional steroids but with limited success. I assessed the efficacy of diode laser for treating the inflammatory and keloidal papules of acne keloidalis nuchae in two cases. The lesions in both the cases showed about 90 to 95% clearance after 4 treatment sessions at one to one and half month intervals. No new lesions were observed during the follow up period of six months after the last laser treatment. Thus, after clearing bacterial infection, laser hair epilation can be used as the first line of therapy for treating papules of acne keloidalis nuchae. This is the first attempt at treating acne keloidalis nuchae with a diode laser.  相似文献   

18.
In X-linked inheritance, the difference between the terms dominant and recessive is blurred by the Lyon effect. In some X-linked recessive genodermatoses, the Lyon effect makes the detection of heterozygote females possible, either by clinical cromanifestations or by enzymatic demonstration of two functionally different populations of cells. The gene locus of X-linked recessive ichthyosis, however, escapes X-inactivation, but heterozygotes can be detected by enzyme analysis in this condition, too. X-linked dominant gene defects with manifestation in both sexes include keratosis follicularis spinulosa decalvans, and probably also the Bazex syndrome. The group of X-linked dominant gene defects with lethality in the male comprises incontinentia pigmenti, focal dermal hypoplasia, the oral-facial-digital syndrome and the CHILD syndrome. Prenatal diagnosis of severe X-linked conditions can be performed when the underlying defect of cell function is known (Fabry disease, Menkes syndrome). In other severe X-linked disorders, the possibility of prenatal determination of the sex may be considered (Wiskott-Aldrich syndrome, X-linked dominant chondrodysplasia punctata, oral-facial-digital syndrome).  相似文献   

19.
Mutations in MBTPS2 have been reported to cause a broad phenotypic spectrum of X‐linked genodermatoses, including IFAP (ichthyosis follicularis; atrichia and photophobia) syndrome (OMIM 308205) with or without BRESHECK (brain anomalies, retardation of mentality and growth, ectodermal dysplasia, skeletal malformations, Hirschsprung disease, ear deformity and deafness, eye hypoplasia, cleft palate, cryptorchidism, and kidney dysplasia/hypoplasia) syndrome, keratosis follicularis spinulosa decalvans (KFSD; OMIM 308800) and an X‐linked form of Olmsted syndrome. We report a recurrent intronic mutation in MBTPS2 (c.671‐9T>G) in a Chinese patient with the typical triad of IFAP syndrome (i.e. ichthyosis, atrichia and photophobia), along with pachyonychia, palmoplantar and periorificial keratoderma, which were reminiscent of Olmsted syndrome. Interestingly, this mutation was previously reported in two cases of IFAP without keratoderma, which suggests clinical heterogeneicity of the same mutation in MBTPS2. The concomitance of Olmsted syndrome‐like features in this patient with IFAP may challenge the existence of the X‐linked form of Olmsted syndrome as an independent condition.  相似文献   

20.
Zusammenfassung Es wird über das sporadische Auftreten einer Keratosis follicularis spinulosa decalvans (KFSD) bei einem 4j?hrigen vietnamesischen Jungen berichtet. Das ehemals frühgeborene Kind zeigt das Vollbild einer KFSD in Kombination mit einem Naevus teleangiectaticus lateralis, persistierenden Ductus arteriosus Botalli und einer Hypospadia glandis. Diese Kombination stellt m?glicherweise ein neues Syndrom dar. Es ist die erste Beschreibung der KFSD bei einem asiatischen Patienten. Eingegangen am 14. November 1997 Angenommen am 21. Januar 1998  相似文献   

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