1/58. Linear lesions reflecting lyonization in women heterozygous for IFAP syndrome (ichthyosis follicularis with atrichia and photophobia).A diagnosis of IFAP (ichthyosis follicularis with atrichia and photophobia) syndrome was established in a 1-year-old boy with congenital hairlessness, generalized ichthyotic skin changes with follicular hyperkeratoses, and photophobia. IFAP syndrome is considered to be an X-linked recessive trait. The phenotype present in female carriers has so far not been delineated. A 2-year-old sister had atrophoderma and ichthyotic skin lesions arranged in a linear pattern and a large noncicatrical bald patch on her scalp. Similarly, the mother had linear lesions of scaling and atrophy as well as circumscribed hairless areas involving the scalp, the axillary region, and the lower legs. Sweat testing by means of iodine starch-reaction visualized hypohidrotic linear lesions corresponding to the areas of hyperkeratosis and atrophy. In both mother and daughter the lesions followed the lines of Blaschko, whereas the boy was diffusely affected. family history showed that the boy's maternal uncle who had died at age 1 year was likewise affected with the same disorder. Moreover, the maternal grandmother had reportedly bald patches on her scalp and very dry skin. This is the first report to document linear skin lesions visualizing lyonization in women heterozygous for IFAP syndrome.- - - - - - - - - - ranking = 1keywords = follicularis, keratosis (Clic here for more details about this article) |
2/58. ichthyosis follicularis with alopecia and photophobia in a mother and daughter.A mother and daughter having ichthyosis follicularis with alopecia and photophobia (IFAP) are reported, with histopathological and electron microscopic findings. We have followed the clinical course of the mother for 26 years since she was 5 years old, and the daughter since birth. They have had almost all the classical and some of the minor symptoms of IFAP, including severe photophobia, extensive non-inflammatory follicular hyperkeratosis, generalized non-scarring alopecia, hyperkeratosis of the extensor aspect of the four extremities, nail deformity and recurrent cheilitis. In addition, their facial appearance greatly resembles that of previously reported patients. A consistent feature in the mother was florid keratotic inflammatory eruptions on the genital region during each of her pregnancies, which rapidly improved after the delivery. skin biopsy of the genital lesion showed marked acanthosis with dyskeratosis and spongiotic changes. The electron microscopic examination of diseased skin showed damaged desmosomes with spongiosis. No obvious changes were found in normal appearing skin.- - - - - - - - - - ranking = 1.0106183337134keywords = follicularis, keratosis (Clic here for more details about this article) |
3/58. Lichen planopilaris-like changes arising within an epidermal nevus: does this case suggest clues to the etiology of lichen planopilaris?BACKGROUND: Lichen planopilaris shows a perifollicular lymphocytic infiltrate at the level of infundibulum and the isthmus of the hair bulge resulting in necrotic changes within keratinocytes and eventually hair loss. OBJECTIVE: We present a 14-year-old black male with a history of a raised epidermal lesion on the scalp that was present at birth. Over the past few years, the patient developed gradual hair loss and increased verrucous changes of the skin within the original lesion. Histologic sections of the area showed features consistent with an epidermal nevus peripherally, with a central area showing some features characteristic of those seen in lichen planopilaris. In addition, there was marked hyperkeratosis with increased yeast and bacteria within the follicles. CONCLUSIONS: Initiating factors in lichen planopilaris are not well defined. Overgrowth of microorganisms with hyperkeratosis results in factors that disrupt the immune privilege of the hair follicle, leading to an immunologic reaction that is limited to the follicle and spares surrounding eccrine structures. This case suggests possible mechanisms involved in the induction of lichen planopilaris.- - - - - - - - - - ranking = 0.010618333713412keywords = keratosis (Clic here for more details about this article) |
4/58. Atrichia, ichthyosis, follicular hyperkeratosis, chronic candidiasis, keratitis, seizures, mental retardation and inguinal hernia: a severe manifestation of IFAP syndrome?A boy with congenital atrichia, ichthyosis follicular, keratitis, cutaneous infections and a huge inguinal hernia, but without deafness is reported. We believe it represents a new case of a rare X-linked recessive syndrome known as ichthyosis follicularis, alopecia, photophobia syndrome (IFAP). The differential diagnosis from keratitis ichthyosis deafness is discussed. The cutaneous infections seen in our case suggest the possibility of considering a genetic link between these syndromes.- - - - - - - - - - ranking = 0.22017483405548keywords = follicularis, keratosis (Clic here for more details about this article) |
5/58. IFAP syndrome "plus" seizures, mental retardation, and callosal hypoplasia.ichthyosis follicularis, congenital alopecia, and photophobia are typical features of a rare X-linked recessive disorder termed ichthyosis follicularis with atrichia and photophobia syndrome. A 3-year-old male with these findings and severe growth failure, mental retardation, generalized seizures, vascularizing keratitis, nail anomalies, inguinal hernia, and a normal chromosome constitution is presented. Two maternal male relatives were affected by the same condition. magnetic resonance imaging revealed corpus callosum hypoplasia not described at present. Syndromes with alopecia, seizures, and mental retardation are analyzed on the basis of genetic and clinical results.- - - - - - - - - - ranking = 0.39787633325732keywords = follicularis (Clic here for more details about this article) |
6/58. Olmsted syndrome.Olmsted syndrome is an uncommon inherited disorder of keratinization that presents mutilating palmoplantar keratoderma, perioral hyperkeratosis, leukokeratosis and alopecia. We report a case of this rare syndrome diagnosed in a 48-year-old woman and confirms the existence of a generalized abnormality in keratin expression. Immunoreactivity in our case suggests an abnormal expression of keratins 5 and 14 similar to the observed in other hyperproliferative disorders.- - - - - - - - - - ranking = 0.010618333713412keywords = keratosis (Clic here for more details about this article) |
7/58. Localized syringolymphoid hyperplasia with alopecia and anhidrosis.We describe a female patient with a localized form of syringolymphoid hyperplasia with alopecia and anhidrosis (SLHA). This woman is the eleventh patient with this disease so far reported in the literature. She suffered from a slowly but continuously progressing single lesion on her right ankle. It took 7 years until the diagnosis of SLHA could be established. Many divergent diagnoses were assumed and different treatments were performed during this time. The final diagnosis was established by histopathology revealing syringotropic T-cell infiltrates. Clinical features were scattered brownish papules, which formed a sharply demarcated erythematous patch lacking hairs and sweat production. The progressive course of the disease and the unresponsiveness to treatments support the current view that SLHA is a syringotropic variant of mucinosis follicularis and therefore should be viewed as a facultative precursor lesion of mycosis fungoides. In our patient, during a 7-year follow-up, no T-cell lymphoma occurred. This case emphasizes the difficulties of establishing the diagnosis of SLHA, which requires cooperation between the dermatologist and dermatopathologist.- - - - - - - - - - ranking = 0.19893816662866keywords = follicularis (Clic here for more details about this article) |
8/58. Lichen planopilaris.P, a 20-year-old laborer displayed initial symptoms of the disease in question when he was 10 years old. Initially he had an asymptomatic progressive loss of hair on the scalp. A couple of years later he had mild to moderate pruritis, and the appearance of slate-blue eruptions on the scalp and elsewhere on the body. This resulted in a complete loss of hair on the vault of the scalp, which led him to seek specialist opinion. skin surface examination revealed the presence of grayish-blue acuminate follicular papules, disposed singly and in groups (plaques). The pilo-sebaceous orifices were conspicuously obliterated and filled by keratin plugs. Perifollicular erythema was a predominant feature on the scalp. The lesions were present over the scalp, around the neck, chest, back, axillae, groin and legs. Shiny atrophied scalp skin depicting scarring alopecia mimicking male-type baldness was a salient feature. In addition, it was studded with conspicuous acuminate papules in its center (Fig. 1a). The known nonhairy (glabrous) skin had classic lichen planus lesions (Fig. 1b). Hemotoxylin-eosin stained microsections prepared from typical lichen planus (LP) lesions over the abdomen and those of lichen planopilaris (LPP) of the scalp were simultaneously studied. The former revealed changes in the epidermis comprising of hyperkeratosis, increase in thickness of stratum granulosum, hydropic degeneration of the basal cell layer and band-like lympho-histiocytic infiltrate pressing against and invading the epidermis, while the latter revealed uniform atrophy of the epidermis and vacuolization of basal cells. The hair follicles were dilated and were filled with keratin plugs. In addition to fibrosis of the dermis, pigment laden microphages and lympho-histiocytic infiltrate was prominent. The follicles and the sebaceous glands were absent. However, arrectores pilorum and sweat glands were preserved (Fig. 2a,b).- - - - - - - - - - ranking = 0.0053091668567061keywords = keratosis (Clic here for more details about this article) |
9/58. A novel connexin 30 mutation in Clouston syndrome.Clouston syndrome (hidrotic ectodermal dysplasia) is an autosomal dominant ectodermal dysplasia characterized by alopecia, palmoplantar hyperkeratosis, and nail dystrophy. Recently, mutations in the GJB6 gene encoding the gap junction protein connexin 30 have been shown to cause this disorder. To date, all mutations have involved two codons: G11R and A88V. Here, we report a novel mutation V37E within the first transmembrane domain of connexin 30 in a spontaneous case of Clouston syndrome. The mutation was detected in genomic dna, confirmed in reverse transcription polymerase chain reaction products, and was excluded from 100 ethnically matched control individuals by restriction enzyme analysis.- - - - - - - - - - ranking = 0.0053091668567061keywords = keratosis (Clic here for more details about this article) |
10/58. ichthyosis follicularis with atrichia and photophobia (IFAP) syndrome in two unrelated female patients.The IFAP syndrome is characterized by the congenital onset of ichthyosis follicularis, absence of hair, and photophobia. A limited number of patients with the disorder have been described, and X-linked recessive inheritance has been proposed. Two unrelated female patients with a complete IFAP syndrome are reported. Both patients show a diffuse distribution of the disorder without linear arrangement. Because the suggested X-linked recessive pattern of inheritance is unlikely in these patients, a different way of transmission or, alternatively, genetic heterogeneity of the disorder has to be considered.- - - - - - - - - - ranking = 0.99469083314329keywords = follicularis (Clic here for more details about this article) |
| | Next -> |