Zusammenfassung
Die monogen vererbten isolierten Alopezien umfassen eine Gruppe klinisch und genetisch heterogener Formen von Haarlosigkeit/-verlust. Die klinische Unterteilung der isolierten Alopezien erfolgt nach Erkrankungsbeginn, betroffenen Regionen und Struktur des Haarschafts. Mädchen und Jungen sind gleichermaßen betroffen; die Vererbung ist autosomal-dominant oder autosomal-rezessiv. Die modernen Technologien (z. B. „whole exome sequencing“) ermöglichen eine immer genauere Einteilung in Subphänotypen.
Eine molekulargenetische Diagnostik ist v. a. dann sinnvoll, wenn es um die Sicherung der Diagnose geht, und/oder um Wiederholungsrisiken für zukünftige Schwangerschaften. Aus ethischen Gründen war es bislang Usus, bei den Alopezien – trotz erheblicher psychischer Belastung in manchen Fällen – keine Pränataldiagnostik anzubieten. Dies ändert sich, sobald weitere Symptome, wie intellektuelle Beeinträchtigung, hinzukommen.
Eine Therapie für diese seltenen Alopezieformen gibt es bislang noch nicht; dies stößt immer wieder auf frustrane Reaktionen bei den Eltern betroffener Kinder.
Abstract
The monogenic inherited isolated alopecias comprise a group of clinically and genetically heterogeneous forms of baldness or hair loss. The clinical classification of isolated alopecias is based on the onset of the disorder, the regions affected and the structure of the hair shaft. Girls and boys are equally affected and the mode of inheritance is autosomal dominant or autosomal recessive. Modern technologies (e.g. whole exome sequencing) enable an increasingly more precise classification into subphenotypes.
Molecular genetic diagnostics are particularly useful when it is necessary to confirm the diagnosis and/or to determine the risk of recurrence for future pregnancies. For ethical reasons it has so far been a common practice not to offer prenatal diagnostics for alopecia, despite considerable psychological stress in some cases. The scheme is different for cases where additional symptoms, such as intellectual disability, may accompany hair loss as a result of the causative mutation.
A treatment for these rare forms of alopecia does not yet exist, which is often met with frustration by the parents of affected children.
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Danksagung
Die Autorin dankt der German-Israeli Foundation und der Deutschen Forschungsgemeinschaft (DFG) für die Exzellenzinitiative des Bundes und der Länder – EXC2151 – 390873048.
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R.C. Betz gibt an, dass kein Interessenkonflikt besteht.
Für diesen Beitrag wurden von der Autorin keine Studien an Menschen oder Tieren durchgeführt. Für die aufgeführten Studien gelten die jeweils dort angegebenen ethischen Richtlinien.
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Teile dieses Beitrags stammen aus dem Artikel [3] Alopezien und Hypotrichosen im Kindesalter der Verfasserin, Hautarzt 2014 · 65:520–526 (https://doi.org/10.1007/s00105-013-2714-y).
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Betz, R.C. Alopezien und Hypotrichosen im Kindesalter: Wann muss an genetische Diagnostik gedacht werden?. Monatsschr Kinderheilkd 169, 124–132 (2021). https://doi.org/10.1007/s00112-020-01104-6
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Schlüsselwörter
- Atrichia congenita
- Papuläre Atrichie
- Monilethrix
- Gene
- Genprodukte
Keywords
- Atrichia congenita
- Papular atrichia
- Monilethrix
- Genes
- Gene products