10.5826/dpc.1304a225
text/xml
2160-9381
3207
en
Rebiay  Kiran
https://creativecommons.org/licenses/by-nc/4.0
Dermatology Practical & Conceptual
A  Rare Genetic Disorder With Dermatologic Manifestation
Text.Serial.Journal
https://dpcj.org/index.php/dpc
Image Letter
2023-10-31
2023-02-03
2023-10-31
2024-01-15
e2023225
Dermatol Pract Concept
Rebiay  Kiran
2023/10/31
10.5826/dpc.1304a225
e2023225
Department of Dermatology and Venerology, Kocaeli University, Kocaeli, Turkey
2160-9381
en
e2023225
syndrome. J Thromb Haemost. 2011 Jun;9(6):1225-35. doi: 10.1111/j.1538-7836.2011.04263.x. PMID: 21435166.
A  Rare Genetic Disorder With Dermatologic Manifestation
https://dpcj.org/index.php/dpc/article/download/3207/2375
             A Rare Genetic Disorder: Keutel Syndrome
                 with Dermatologic Manifestation
                                    Didem Kazan1, Hatice Eloglu1, Rebiay Kiran1


1 Department of Dermatology and Venerology, Kocaeli University, Kocaeli, Turkey



Citation: Kazan D, Eloglu H, Kiran R. A Rare Genetic Disorder: Keutel Syndrome with Dermatologic Manifestation. Dermatol Pract
Concept. 2023;13(4):e2023225. DOI: https://doi.org/10.5826/dpc.1304a225
Accepted: April 7, 2023; Published: October 2023
Copyright: ©2023 Kazan et al. This is an open-access article distributed under the terms of the Creative Commons Attribution-
NonCommercial License (BY-NC-4.0), https://creativecommons.org/licenses/by-nc/4.0/, which permits unrestricted noncommercial use,
distribution, and reproduction in any medium, provided the original authors and source are credited.
Funding: None.
Competing Interests: None.
Authorship: All authors have contributed significantly to this publication.
Corresponding Author: Didem Kazan, Department of Dermatology and Venerology, Kocaeli University. Tel : +902623037575 E-mail:
didem.senses_343@hotmail.com




Case Presentation                                                        Teaching Point
A 26-year-old female presented with erythematous atrophic                Keutel Syndrome (KS) is a rare autosomal recessive he-
irregularly bordered depressed patches on both sides of the              reditary genetic disorder with an estimated prevalence of
neck that gradually developed over the 5 months. She was                 1:1000000 [1]. It is associated with loss-of-function muta-
previously diagnosed with contact dermatitis, and treated                tions in the gene coding for the matrix Gla protein (MGP).
with two weeks of topical hydrocortisone cream without any               Abnormal calcification of cartilaginous tissues resulting in
improvement. She also had stridor and recurrent respiratory              malformations of skeletal tissues (eg, midface hypoplasia ),
infections since her childhood, hear-loss, and nose augmen-              respiratory defects (eg, tracheobronchial cartilage calcifica-
tation operation 6 years ago. Dermatological examination                 tion ), and cardiovascular defects (eg, arterial calcification).
revealed erythematous atrophic patches on both sides of the              Khosroshahi et al reported long-term follow-up results of
neck, and laxity on both sides of the trunk (Figure 1, A-C). In          4 patients with KS [2]. All patients developed erythematous
addition, frontal bossing, maxillary hypoplasia, hypoplastic             atrophic skin lesions after 30 years of age. The pathogenesis
small nose with a broad, depressed nasal bridge and hypo-                of skin findings in KS is not fully understood. It is thought
plastic nostrils, short philtrum, prominent eyes, and dental             to develop because of the destruction of elastic fibers in the
malocclusion were observed. Her parents were first-degree                papillary dermis due to progressive abnormal calcification
cousins. On presentation to our clinic, punch biopsy from                [1,2]. However, we think that further studies will show the
multiple skin lesions revealed elastin fragmentation and loss            reasons why especially the elastic fibers of the papillary der-
on the superficial dermis (Figure 1 D). Based on these find-             mis are affected and that these findings develop after the age
ings our patient was diagnosed with Keutel syndrome with                 of 30. Although systemic treatment with vitamin K supple-
skin manifestation. She was treated with barrier cream and               ments has been tried previously, curative treatment has not
sunscreen.                                                               been available [3]. However, multidisciplinary follow-up for




Image Letter | Dermatol Pract Concept. 2023;13(4):e2023225                                                                             1
                        Figure 1. (A, B) Erythematous atrophic patches on the both sides of neck. (C) Prominent
                        laxity on the trunk, (D) Fragmantation and loss of elastin on the dermis (H&E, X100).




systemic involvement is vital [1,2]. Dermatologists play a                Dev Biol. 2021;9:642136. DOI: 10.3389/fcell.2021.642136.
key role also in the diagnosis of genetic diseases. Keutel syn-           PMID: 33996798. PMCID: PMC8117146.
                                                                       2. Khosroshahi HE, Sahin SC, Akyuz Y, Ede H. Long term fol-
drome is a rare genetic disorder but should be kept in mind,
                                                                          low-up of four patients with Keutel syndrome. Am J Med Genet
especially in the presence of a phenotype suggestive of a ge-
                                                                          A. 2014;164A(11):2849-2856. DOI: 10.1002/ajmg.a.36699.
netic syndrome and erythematous atrophic patches located                  PMID: 25123378.
on the neck and upper body.                                            3. Cranenburg EC, VAN Spaendonck-Zwarts KY, Bonafe L, M      ­ ittaz
                                                                          Crettol L, Rödiger LA, Dikkers FG, VAN Essen AJ, Superti-Furga A,
                                                                          Alexandrakis E, Vermeer C, Schurgers LJ, Laverman GD. Cir-
References                                                                culating matrix γ-carboxyglutamate protein (MGP) species
                                                                          are refractory to vitamin K treatment in a new case of Keutel
 1. Cancela ML, Laizé V, Conceição N, Kempf H, Murshed M.                 syndrome. J Thromb Haemost. 2011 Jun;9(6):1225-35. doi:
    ­Keutel Syndrome, a review of 50 years of literature. Front Cell      10.1111/j.1538-7836.2011.04263.x. PMID: 21435166.




2                                                                            Image Letter | Dermatol Pract Concept. 2023;13(4):e2023225
