Immunohistochemical, ultrastructural, and molecular features of Kindler syndrome distinguish it from dystrophic epidermolysis bullosa

Shimizu, H.

doi:10.1001/archderm.133.9.1111

Cited by 27 publications

(39 citation statements)

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“…Kapasi et al [29]again documented an impressive case with marked mottled pigmentation on the neck. Shimizu et al [30]showed that Kindler syndrome is a distinct entity which can be separated by molecular features, immunohistochemical and ultrastructural methods from other diseases.…”

Section: Unclassified Ectodermal Dysplasiasmentioning

confidence: 99%

Genodermatosis with Reticulate, Patchy and Mottled Pigmentation of the Neck – A Clue to Rare Dermatologic Disorders

Itin

Lautenschläger

1998

Dermatology

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Reticulate pigmentation of the neck is a common finding in numerous genodermatoses and acquired diseases. As the neck is readily accessible to medical inspection, it may serve as a diagnostic window for various dermatoses. Several entities out of the spectrum of ectodermal dysplasia present with reticulate or mottled pigmentation on the upper trunk and neck. The most impressive genodermatoses with punctate and reticulate pigmentation affecting the neck are the Naegeli-Franceschetti-Jadassohn syndrome, dermatopathia pigmentosa reticularis and dyskeratosis congenita. Reticulate pigmented anomaly of the flexures and lentiginosis, disorders of cornification and related entities are further genodermatoses which may involve the neck. In our review we have integrated inherited dermatoses which do not obligatorily affect the neck but have been well documented to do so. Our work should give the clinician a checklist on genodermatoses which may produce reticulate and mottled pigmentation on the neck.

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Section: Unclassified Ectodermal Dysplasiasmentioning

confidence: 99%

Genodermatosis with Reticulate, Patchy and Mottled Pigmentation of the Neck – A Clue to Rare Dermatologic Disorders

Itin

Lautenschläger

1998

Dermatology

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“…Electron microscopy reveals reduplication of the lamina densa, collagen lysis within the upper dermis and focal clefting in the lamina lucida, as shown in Fig. 2 [4,11]. Hemidesmosomes and anchoring fibrils appear normal.…”

Section: Histopathologymentioning

confidence: 90%

“…Blistering may be spontaneous or traumatic and usually resolves with age, although there is one reported case where bullae recurred in the fifth decade [3]. Nikolsky's sign is negative [1,4]. Cutaneous atrophy may be widespread although it is most prominent on the dorsa of the hands and feet and on the knees and elbows, giving rise to the so-called 'cigarettepaper' like wrinkling of the skin, as shown in Fig.…”

Section: Introduction and Clinical Featuresmentioning

confidence: 99%

Kindler surprise: mutations in a novel actin-associated protein cause Kindler syndrome

White

McLean

2005

Journal of Dermatological Science

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“…Kollagen VII ist abnormal breit verteilt; Laminin 5 fehlt streckenweise, wie in der Literatur beschrieben [1,4,7].…”

Section: Antigen-mappingunclassified

“…Die Unterschiede liegen im Erbgang, dem klinischen Erscheinungsbild sowie den histologischen und ultrastrukturellen Befunden. Zusätzlich ist der Krankheitsverlauf zu berücksichtigen [4,6,7,8].…”

Section: Diskussionunclassified

Kongenitale bullöse Poikilodermie (Kindler-Syndrom)

Binder

Metze²,

Smolle

2002

Hautarzt

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We report on an 18 years old female patient who presented with synechia of the labia. History reveals congenital blistering with acral localization and photosensitivity in childhood. At present, the patient showed wide-spread poikoloderma with reticulate hyperpigmentation, xerosis, proximal synechia between fingers and toes and absence of dermatoglyphics, suggestive for congenital bullous poikiloderma (Kindler syndrome). The diagnosis was confirmed by histology and electron microscopy. Kindler syndrome is a rare, autosomal recessive disorder with synechia of mucosal areas being the presenting symptom.

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Immunohistochemical, ultrastructural, and molecular features of Kindler syndrome distinguish it from dystrophic epidermolysis bullosa

Cited by 27 publications

References 0 publications

Genodermatosis with Reticulate, Patchy and Mottled Pigmentation of the Neck – A Clue to Rare Dermatologic Disorders

Genodermatosis with Reticulate, Patchy and Mottled Pigmentation of the Neck – A Clue to Rare Dermatologic Disorders

Kindler surprise: mutations in a novel actin-associated protein cause Kindler syndrome

Kongenitale bullöse Poikilodermie (Kindler-Syndrom)

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