A novel KIT mutation in a family with expanded syndrome of piebaldism

Slides:

Advertisements

Similar presentations

Volume 3, Issue 2, Pages (March 2017)

Advertisements

Jeff Donovan, MD, PhD, FRCPC JAAD Case Reports

A case of delayed anaphylaxis after laser tattoo removal

Muneeb Ilyas, BSc, Amit Sharma, MD JAAD Case Reports

Figure 2 Sanger sequencing, conservation, and summary of known ACO2 mutations Sanger sequencing, conservation, and summary of known ACO2 mutations (A)

Flood syndrome JAAD Case Reports

Sara B. Ferguson, MD, Elisa S. Gallo, MD JAAD Case Reports

Hemorrhagic lesion on the chest wall after trauma

Volume 3, Issue 3, Pages (May 2017)

An enlarging, ulcerated scalp nodule

Volume 3, Issue 6, Pages (November 2017)

Conjunctivitis, mucosal erosions, and moist cutaneous plaques

Localized hypertrichosis after infectious rash in adults

Volume 3, Issue 2, Pages (March 2017)

Volume 4, Issue 4, Pages (May 2018)

Hair repigmentation associated with the use of brentuximab

Volume 2, Issue 2, Pages (March 2016)

Simultaneous improvement of alopecia universalis and atopic dermatitis in a patient treated with a JAK inhibitor Gabriela M. Morris, BS, Zachary P. Nahmias,

Flesh-colored papules and nodules on the face

Volume 4, Issue 6, Pages (July 2018)

Is the hip prosthesis responsible for this rash?

Volume 4, Issue 3, Pages (April 2018)

Volume 4, Issue 10, Pages (November 2018)

Mark D. Heibel, MD, Haley D. Heibel, MS JAAD Case Reports

Two cases of maggot debridement therapy in pyoderma gangrenosum

Successful treatment of livedoid vasculopathy with rivaroxaban

Gina Francisco, MBS, Babar K. Rao, MD, Frank C. Victor, MD

Eczema craquelé associated with nephrotic syndrome

Carvedilol for the treatment of red scrotum syndrome

Dema T. Alniemi, MD, Laura McGevna, MD JAAD Case Reports

Anjali Shroff, MD, Emma Guttman-Yassky, MD, PhD JAAD Case Reports

Nicole Maillet-Lebel, MD, Marie-Marthe Thibeault, MD, FRCPC

Recurrent breast cellulitis from a nipple fissure

Diffuse pruritic papules

Volume 4, Issue 6, Pages (July 2018)

Pediatric psoriasis treated with apremilast

An atypical presentation of a rare disease

A possible association between mycosis fungoides and Muir-Torre syndrome: Two disorders with microsatellite instability Daniel J. Lewis, BA, Madeleine.

Volume 4, Issue 9, Pages (October 2018)

Slowly progressive chest rash in an elderly woman

Stefan Tukaj, PhD, Detlef Zillikens, MD, Michael Kasperkiewicz, MD

Circinate oral and genital mucositis

Volume 3, Issue 6, Pages (November 2017)

Papules developing in an old tattoo

Volume 4, Issue 7, Pages (August 2018)

Volume 1, Issue 6, Pages (November 2015)

Olga Vornicova, MD, Gil Bar-Sela, MD JAAD Case Reports

Recalcitrant prurigo nodularis treated successfully with dupilumab

Volume 5, Issue 3, Pages (March 2019)

Bilateral sole hyperkeratosis and nonhealing foot mass

Painful violaceus bullae of the hands

Identification of novel targetable mutations in metastatic anorectal melanoma by next- generation sequencing Emily D. Cai, BA, Jinah Kim, MD, PhD JAAD.

Widespread hyperpigmented rash present for 1 year

Treatment of monilethrix with oral minoxidil

Figure. Pedigree of the family studied, photographs, and identification of a homozygous mutation in TBCK Pedigree of the family studied, photographs, and.

Extensive skin necrosis

Volume 3, Issue 6, Pages (November 2017)

Multisystemic Langerhans cell histiocytosis in an adult

Erythema multiforme in a child with Kawasaki disease

Volume 3, Issue 4, Pages (July 2017)

Lip ulceration in an immunocompromised patient

Figurate erythema for 20 years

Bryan Baillis, MD, John C. Maize, MD JAAD Case Reports

Tattoo pigment removal by halo nevus phenomenon

Morphea in a patient undergoing treatment with ustekinumab

Brian B. Johnson, MD, Lisa A. Beck, MD, S. Shahzad Mustafa, MD

Whitish elbow nodules in a healthy 11-year-old girl

Volume 5, Issue 7, Pages (July 2019)

Volume 5, Issue 8, Pages (August 2019)

Volume 5, Issue 8, Pages (August 2019)

Presentation transcript:

A novel KIT mutation in a family with expanded syndrome of piebaldism Issam Hamadah, MD, Muzamil Chisti, MD, Mansoor Haider, FCPS, Haya Al Dosssari, PhD, Rawan Alhumaidan, PhD, Brian F. Meyer, PhD, Salma M. Wakil, PhD JAAD Case Reports Volume 5, Issue 7, Pages 627-631 (July 2019) DOI: 10.1016/j.jdcr.2019.01.021 Copyright © 2019 American Academy of Dermatology, Inc. Terms and Conditions

Fig 1 A, Pedigree of the described Family 1. Parents (I.1 and I.2) of the individuals (II.1, II.2, II.3, II.4, and II.5). Filled boxes indicate individuals affected by piebaldism, and open boxes indicate phenotypically normal individuals. B, Sanger sequencing analysis of the KIT gene identified a heterozygous variant (c.1823C>A; p.Ala608Asp) in the affected individual (upper panel), homozygous wild type in the normal control (middle panel) and unaffected sibling (lower panel). C, Evolutionary conservation of the alanine at position 608 of KIT1. JAAD Case Reports 2019 5, 627-631DOI: (10.1016/j.jdcr.2019.01.021) Copyright © 2019 American Academy of Dermatology, Inc. Terms and Conditions

Fig 2 A, Heterochromia iridis in patient I.1. B, Widespread depigmented patches with total poiliosis in patient II.1. Note: Both the patients have dyed their hair. JAAD Case Reports 2019 5, 627-631DOI: (10.1016/j.jdcr.2019.01.021) Copyright © 2019 American Academy of Dermatology, Inc. Terms and Conditions