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Unilateral keratosis follicularis is considered a localized variant of Darier's disease and should be included in the differential diagnosis of zosteriform keratotic eruptions. The authors present a case report and review the treatment; topical retinoic acid appears to be the treatment of choice.
Keratosis follicularis spinulosa decalvans is a rare, X-linked disorder affecting both the skin and eyes. There are few reports about this entity. The aim of this report is to describe 2 brothers with progressive scarring alopecia of the scalp, hypotrichosis with follicular prominence of the eyelashes, and extensive keratosis pilaris. The second patient has Down syndrome with palmoplantar keratoderma and partial alopecia of the eyebrows. We also reviewed the literature about this uncommon entity.
Keratosis follicularis spinulosa decalvans (KFSD) or Siemens-1 syndrome is a rare X-linked disease of unknown etiology affecting the skin and the eye. Although most affected families are compatible with X-linked inheritance, KFSD appears to be clinically and genetically heterogeneous. So far, the gene has been mapped to Xp22.13p22.2 in two extended KFSD families. Analysis of additional recombination events in the first Dutch pedigree located the gene to an interval covering approximately 1 Mb between markers DXS7163 and DXS7593/DXS7105, whereas haplotype reconstruction in the second German family positioned the gene outside the previously identified region, proximal to marker DXS274. We report here the molecular characterization of an Xp21.1p22.12 duplication present in a patient affected with dosage-sensitive sex reversal (DSS) and KFSD. The duplicated region includes both the DAX1 gene (previously demonstrated to be responsible for DSS) and the KFSD interval, in which the gene encoding spermidine/spermine N(1)-acetyltransferase ( SSAT) is located. This enzyme catalyzes the N(1)-acetylation of spermidine and spermine and, by the successive activity of polyamine oxidase, the spermine can be converted to spermidine and the spermidine to putrescine. Overexpression of the SSAT enzyme in a mouse model results in putrescine accumulation and a phenotype with skin and hair abnormalities reminiscent of human KFSD. Analysis of polyamine metabolism in the cells of the patient indicated that the levels of metabolites such as putrescine, spermidine and spermine were consistent with the overexpression of the SSAT gene as in the murine model. Thus, we propose that overexpression of SSAT and the consequent putrescine accumulation are involved in the KFSD phenotype, at least in our propositus.
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.
BACKGROUND: Darier's disease (keratosis follicularis) is known to have a genetic cause as evidenced by its autosomal dominant transmission in families. The gene causing this disease has not been discovered. OBJECTIVE: During an ongoing linkage study of schizophrenia, a family segregating Darier's disease was found. This family is being studied in an attempt to locate prospective regions that may contain the Darier's disease gene. METHODS: Two genetic strategies are being employed: (1) testing candidate genes for the disorder and (2) scanning the entire genome with polymerase chain reaction-based microsatellite markers. RESULTS: Thirty-nine marker systems located on chromosomes 1, 2, 4, 5, 6, 9, 11, 12, 16, 17, 22, X, and Y have been genotyped. Slightly positive lod scores were achieved between six markers and Darier's disease. The remaining 33 markers were nonsegregating or indeterminate, or revealed an obligate recombinant. CONCLUSION: Linkage analysis can lead to localization of the gene causing Darier's disease. In these preliminary studies low positive lod scores were obtained, potentially pointing to the chromosomal location of the Darier's disease gene.
We carried out provocation studies on the lesions of keratosis follicularis by the use of UV radiation. Nonerythema-producing doses of UV-B elicited the lesions in uninvolved skin sites in a 34-year-old man with this disease. The elicited lesions were compatible with those of keratosis follicularis both clinically and histopathologically. Similar irradiation with UV-A produced no visible changes in the test area.
Four patients with extensive keratosis follicularis (Darler's disease) showed excellent clinical response to the oral administration of a new aromatic derivative of retinoic acid (RO 10-9359). Initial oral treatment with 50 to 75 mg of the drug was followed by substantial improvement in four to seven days and the lesions cleared completely after three to four weeks. Long-term treatment with 25 to 30 mg/day was sufficient to prevent recurrence. No serious side effects were seen with this dosage after several months. Some dryness of the lips and the nasal mucosa occurred and one patient experienced slight nausea. Histological investigations showed the gradual disappearance of acantholysis, dyskeratosis, and hyperkeratosis, in this order. The given therapeutic schedule is a reliable routine management for keratosis follicularis in adults.
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.
Keratosis follicularis spinulosa decalvans (ichthyosis follicularis or Siemens's syndrome) is considered a general form of keratosis pilaris decalvans. Localized types are keratosis pilaris atrophicans and atrophoderma vermicularis. A case of this unusual process is presented. Clinical, histological and scanning electron microscopic studies of the hair were performed. Clinically, a generalized hypotrichosis with hyperkeratotic follicular plugs is observed; especially in the scalp and the eyebrows. Other interesting clinical findings were cutis hyperelastica, gingival hypertrophy, mongoloid palpebral fissures, big pinnae and clinodactyly of the 5th finger. From the histological point of view we observed follicular plugging, dystrophic pilosebaceous follicles, absence of sebaceous glands, perifollicular fibrosis and minimal lymphomonocytic infiltrate. Scanning electronmicroscopy shows a brittle hair with cuticular abnormalities. Siemens's syndrome can be considered a specific pilosebaceous dysplasia because the absence or hypoplasia of sebaceous glands; which produces follicular hyperkeratosis and pilar atrophy with perifollicular fibrosis and alopecia.
Keratosis follicularis spinulosa decalvans (KFSD) is a rare, X linked disorder with skin and eye involvement (MIM 308800). We have studied a large British family with KFSD using polymorphic markers from Xp21-p23 and obtained a lod score of 2.056 at theta=0 with markers proximal and distal to the KFSD candidate region Xp22.13-p22.2 identified by Oosterwijk et al. Our data confirm the linkage to Xp22.13-p22.2 observed in the previously reported Dutch family, but fail to narrow the candidate interval for the KFSD locus.
Because of the rarity of Darier's disease (keratosis follicularis) occurring as an acute, eruptive disease in a mature adult, a case with sudden onset in a 51-year-old white man is reported. Small, pale-gray, smooth papules on the sides of the arms spread to the sides of the chest, abdomen, and legs within a week. With a biopsy examination, histopathologic findings were acanthosis, hyperkeratosis, lacunae, acantholysis, corps ronds, and grains. Topical therapy with 0.05% fluocinonide (Lidex) cream has given marked improvement.
X-linked keratosis follicularis spinulosa decalvans (KFSD) is a rare disorder affecting the skin and eyes. The disease was previously mapped in an extended Dutch family to Xp21.2-p22.2 between DXS16 and DXS269. Using five DNA probes and 14 CA repeat polymorphisms spanning this region an extensive linkage study was performed in the same pedigree. The highest lod scores were 12.07 for DXS365 (pRX-314) at 0 = 0, 11.72 for DXS418 (P122) at 0 = 0.015, and 10.93 for DXS989 (AFM135xe7) at 0 = 0.045. Analysis of recombination events locates the gene for KFSD between AFM291wf5 and DXS1226 (AFM316yf5). This is region Xp22.13-p22.2, an area covering approximately 1 Mb. These data confirm and greatly refine the regional localisation of KFSD and greatly improve reliability of carrier detection.
Keratosis follicularis spinulosa decalvans (KFSD) is a rare X-chromosomal disorder. It consists of follicular hyperkeratosis of the skin, scarring alopecia of the scalp, absence of the eyebrows, and corneal degeneration. There is photophobia in childhood, but the symptoms tend to diminish after puberty, and prognosis for vision is good. Some heterozygotes do show clinical symptoms. In a large Dutch pedigree we performed DNA analysis in order to localize the KFSD gene. In 54 individuals, including 21 affected males, RFLP analysis was done using DNA probes covering the X chromosome. Two-point linkage analyses with 19 informative DNA markers revealed significant linkage to DNA probes on Xp21.1-p22.3. The highest lod scores of 5.70 and 4.38 were obtained with DXS41 and DXS16 at a recombination fraction of zero and 4 cM, respectively. Multipoint linkage data place KFSD between DXS16 and DXS269. Our data confirm X linkage of KFSD in this family and tentatively map the gene on Xp22.2-p21.2. Combined with clinical investigation, RFLP analysis may become an important tool in carrier detection.
Keratosis follicularis squamosa (KFS) is a keratinizing disorder, which is well recognized in Japan but rarely reported in other countries. KFS is characterized by asymptomatic small scaly patches with a follicular plug that is scattered on the trunk and thighs. It is easily diagnosed by its characteristic appearance that was originally described in Japanese as "lotus leaves on the water". We report a typical case of KFS and review the mainly Japanese literature. We conclude that KFS is a distinct clinical entity of unknown origin. World-wide recognition of this disease should further clarify the prevalence and pathogenesis of this skin condition.
A hypothesis according to which two types of keratosis follicularis (below) should be differentiated is discussed with reference to clinical findings recorded during mass screening in kindergartens and in a dermatological practice: (1) condition improves, to normal in early adulthood, a type in which the for which heritability not cannot be identified by mass screening; (2) a type with growing incidence, primarily among women up to 30 years of age, caused by an X-linked dominant gene.
Keratosis follicularis spinulosa decalvans (KFSD) is a rare X-linked disorder of keratinization of the hair follicle associated with corneal dystrophy. The clinical picture is characterized by solid follicular hyperkeratosis, especially on the exposed skin, sparse eyebrows/eyelashes, follicular scaling and scarring alopecia of the scalp, dry skin and ocular symptoms with keratitis and photophobia. We describe the three stages of the disease: onset, inflammation and partial remission and the treatment appropriate in each. Two patients in the inflammatory stage of KFSD, with recurrent deep, fibrosing folliculitis and perifolliculitis followed by spreading and scarring alopecia on the scalp, responded to oral therapy with retinoids. In both cases there was a distinct and lasting remission of the inflammation and stabilization of the spreading alopecia after treatment with etretinate (Tigason), up to 0.8 mg/kg body weight, or isotretinoin (Roaccutan), 0.5 mg/kg body weight, for 12 weeks. The follicular spinulous hyperkeratosis became softer, but persisted. Thus, oral therapy with retinoids appears helpful in the inflammatory stage of KFSD, even though there is little improvement in the follicular hyperkeratosis.
Keratosis follicularis spinulosa decalvans (KFSD) appeared sporadically in an Asian boy, who also presented with naevus teleangiectaticus lateralis, patent ductus arteriosus (Botalli) and hypospadia. The association of these findings raises the question of a new syndrome. In addition, this is the first report of KFSD in a patient of Asian origin.
Keratosis follicularis spinulosa decalvans (KFSD) is a rare X linked disease which is characterised by follicular hyperkeratosis of the skin and corneal dystrophy. Seven male patients and six female carriers are described. Special attention has been paid to the dermatological and ophthalmic markers of KFSD in patients and carriers. The most prominent features present in the male patients were follicular hyperkeratosis, hyperkeratosis of the calcaneal regions of the soles, scarring alopecia of the scalp, absence of eyebrows and eyelashes, and corneal dystrophy accompanied by photophobia. They also had high cuticles on the fingernails which has not been described before. Carriers often have dry skin, minimal follicular hyperkeratosis, and mild hyperkeratosis of the calcaneal areas of the soles. Mild corneal dystrophy without photophobia was observed in one female carrier.