Cases reported "Nails, Malformed"

Filter by keywords:



Filtering documents. Please wait...

1/8. Delayed-onset pachyonychia congenita associated with a novel mutation in the central 2B domain of keratin 16.

    A young girl with clinical features of pachyonychia congenita type 1 was unusual in that the typical skin and nail changes were not noted until the age of 6 years. Direct sequencing of the KRT16A gene, encoding keratin K16, revealed a novel mutation K354N in the central 2B domain of the K16 polypeptide. The mutation created a new BsmI restriction site and therefore, the mutation was confirmed in the patient and excluded from both parents and 50 normal, unrelated individuals by BsmI digestion of KRT16A polymerase chain reaction products. This is the first time a mutation has been described in this location in a keratin other than K14, where similar mutations cause the milder Weber-Cockayne and/or Kobner types of epidermolysis bullosa simplex.
- - - - - - - - - -
ranking = 1
keywords = epidermolysis bullosa, epidermolysis, bullosa
(Clic here for more details about this article)

2/8. Herlitz junctional epidermolysis bullosa presenting at birth with anonychia: a case report and review of H-JEB.

    A 15-day-old Yemeni boy presented with anonychia and granulomatous nail beds and white patches in the mouth. biopsy specimens from the nail beds were nondiagnostic. Shortly thereafter the child developed multiple tense bullae, a hoarse voice, and poor appetite. hematoxylin and eosin staining along with monoclonal antibody studies of a skin biopsy specimen revealed subepidermal bullae through the lamina lucida and a marked decrease in laminin 5. A diagnosis of junctional epidermolysis bullosa Herlitz variant was made. His course was complicated by multiple nonhealing wounds, oral pharyngeal involvement, sepsis, anemia, and poor nutrition, leading to his eventual death. This report emphasizes the unusual presentation of Herlitz junctional epidermolysis bullosa with anonychia as the initial finding and a relatively prolonged period before cutaneous blister formation, resulting in delay of diagnosis.
- - - - - - - - - -
ranking = 6
keywords = epidermolysis bullosa, epidermolysis, bullosa
(Clic here for more details about this article)

3/8. Isolated congenital anonychia cases with coincident chromosomal fragility.

    Isolated anonychia without any associated phenotypical disturbances is one of the rarest anomalies of congenital nail disorders. Some or all fingers of the hands or feet could be affected. Anonychia can be encountered in dermatologic disorders like pemphigus, lichen planus, epidermolysis bullosa; it can also be seen as a component of some syndromes like Nail-patella and Cooks syndromes. We present a sister couple in whom all fingernails and toenails were lacking without any additional physical sign. A fragile chromosomal site was also encountered in peripheral chromosome analysis in the long arm of the chromosome 10 in both of the cases.
- - - - - - - - - -
ranking = 1
keywords = epidermolysis bullosa, epidermolysis, bullosa
(Clic here for more details about this article)

4/8. epidermolysis bullosa simplex associated with muscular dystrophy with recessive inheritance.

    Epidermolysis bullosa with unusually severe clinical features was associated with progressive muscular dystrophy in two siblings. light and electron microscopic examination revealed an intraepidermal cleavage confirming that this mechanobullous disease belonged to the epidermolysis bullosa simplex group. This may represent a new disease entity inherited in an autosomal-recessive fashion.
- - - - - - - - - -
ranking = 1.2868344413524
keywords = epidermolysis bullosa, epidermolysis, bullosa
(Clic here for more details about this article)

5/8. Generalized atrophic benign epidermolysis bullosa.

    Eight cases of a new variant of hereditary epidermolysis bullosa (EB), generalized atrophic benign EB, are reported. This is a junctional form of EB that, in contrast to EB letalis of Herlitz, has a good prognosis. It is inherited as an autosomal recessive trait, and the clinical picture is monotonously similar in all patients observed so far, with generalized blister formation, atrophic alopecia, and dystrophic nail changes. Blisters on the skin and mucous membranes heal without scarring or dystrophy but often result in notable atrophy. There is a definite tendency for amelioration of symptoms as the patients age, but therapy has, so far, been ineffective.
- - - - - - - - - -
ranking = 5
keywords = epidermolysis bullosa, epidermolysis, bullosa
(Clic here for more details about this article)

6/8. Laryngo-onycho-cutaneous syndrome: an inherited epithelial defect.

    Three children with an unusual but clearly defined combination of clinical findings that appear to have been inherited in an autosomal recessive manner are described. All had developed laryngeal abnormalities, chronic skin ulceration, nail dystrophy, and conjunctival disease in infancy. In every case, dental enamel was hypoplastic and both skin and mucosal surfaces demonstrated increased susceptibility to trauma. Progression of disease occurred, to life threatening respiratory obstruction in two cases and to effective blindness and fatal respiratory obstruction in the third child. All of these children came from the Pakistani ethnic group. No medical treatment has halted progression of this disease but laser therapy has been partially successful in alleviating laryngeal manifestations. Ultrastructural and immunohistological examination of unaffected skin was undertaken in each child. No abnormality was found in the child with the mildest clinical disease. Both of the other children showed abnormal hemidesmosomes on ultrastructural examination. The most severely affected child also had abnormally weak immunoreactivity with antibodies G71 and GB3 directed against basal cell alpha 6 beta 4 integrin and the basement membrane glycoprotein nicein respectively. These abnormal findings are also seen in skin from patients with junctional epidermolysis bullosa. These three children have the laryngo-onycho-cutaneous syndrome, which may not be rare in their ethnic group. The available clinical and pathological evidence is consistent with this syndrome being caused by an inherited defect affecting the lamina lucida of the skin basement membrane zone. The laryngo-onycho-cutaneous syndrome may therefore represent a new and distinctive type of junctional epidermolysis bullosa.
- - - - - - - - - -
ranking = 2
keywords = epidermolysis bullosa, epidermolysis, bullosa
(Clic here for more details about this article)

7/8. epidermolysis bullosa simplex herpetiformis of Dowling-Meara with mottled pigmentation: the relationship between EBS herpetiformis and EBS with mottled pigmentation.

    A 6-year-old girl with epidermolysis bullosa simplex (EBS) is described. Clinical features include generalized herpetiform blistering of the skin, healing without scars, intraoral blistering, nail dystrophy, palmoplantar keratoderma, and improvement with age. An unusual feature was the presence of a striking mottled pigmentation involving the arms, trunk, and legs. histology, immunofluorescence, and electron microscopy of a fresh lesion showed an intraepidermal split within the basal keratinocytes, focal hyperpigmentation of the basal cells without an inflammatory infiltrate, and tonofilament clumping. Our patient illustrates the clinical features of Dowling-Meara EBS with the pigmentary changes of EBS with mottled pigmentation. The relationship between EBS of Dowling-Meara and EBS with mottled pigmentation is discussed.
- - - - - - - - - -
ranking = 1.2294675530819
keywords = epidermolysis bullosa, epidermolysis, bullosa
(Clic here for more details about this article)

8/8. Congenital localized skin defect and epidermolysis bullosa hereditaria letalis.

    Epidermolysis bullosa hereditaria letalis (Herlitz) rarely appears with all the clinical characteristics originally described as belonging to the syndrome. Besides the blistering of the skin and mucous membranes in the oral cavity, the case presented showed dystrophic nails, congenital localized skin defects with hypoplasia of underlying structures and a rare but characteristic malformation of the foot of the affected extremity. No scar formation occurred before death at the age of 6 months. Histological examination of the blisters showed separation between the basement membrane and the cell membrane of the basal cells. In areas of skin defects, normal appearing hair follicles and sweat glands were seen. The relation of the syndrome to Bart's syndrome is discussed.
- - - - - - - - - -
ranking = 4.0573668882705
keywords = epidermolysis bullosa, epidermolysis, bullosa
(Clic here for more details about this article)


Leave a message about 'Nails, Malformed'


We do not evaluate or guarantee the accuracy of any content in this site. Click here for the full disclaimer.