Huriez syndrome: Additional pathogenic variants supporting allelism to SMARCAD syndrome.

Huriez syndrome (HRZ, OMIM181600) is a rare genodermatosis characterized by scleroatrophic hands and feet, hypoplastic nails, palmoplantar keratoderma, and predisposition to cutaneous squamous cell carcinoma (cSCC). We report herein three HRZ families from Croatia, the Netherlands, and Germany. Deep sequencing followed by Sanger validation, confirmed the presence of germline causative SMARCAD1 heterozygous pathogenic variants. All seven HRZ patients displayed hypohidrosis, adermatoglyphia, and one patient developed cSCC at 32 years of age. Two novel monoallelic germline mutations were identified which are predicted to disrupt the first exon-intron boundary of the skin-specific SMARCAD1 isoform. On the basis of phenotypic and genotypic convergence with Adermatoglyphia (OMIM136000) and Basan syndrome (OMIM129200), our results lend credence to the notion that these three Mendelian disorders are allelic. We propose adding Huriez syndrome to the previously suggested SMARCAD syndrome designation, which was originally invoked to describe the spectrum of monogenic disorders between Adermatoglyphia and Basan syndrome.

Capecitabine induced fingerprint loss: Case report and review of the literature.

INTRODUCTION: Adermatoglyphia is defined as the medical condition clinically diagnosed to those who have a congenital or acquired loss of the epidermal ridges on the fingertips, commonly known as fingerprints. Capecitabine, a fluoropyrimidine, is the treatment of choice in a myriad of tumors and has occasionally been reported to cause adermatoglyphia as a secondary effect upon its use. CASE REPORT: A 52-year-old female patient, diagnosed with stage IV metastatic left breast cancer with extension to bone in late 2011 reported upon biopsy a hormone receptor positive Her2 negative ductal carcinoma. After initial treatment with a combined radiotherapy and chemotherapy palliative treatment, hepatic and lung metastasis progression obliged capecitabine oral intake. In 2018, after two years on the fluoropyrimidine (capecitabine), the patient reported adermatoglyphia. MANAGEMENT & OUTCOME: The patient opted to continue taking the medication, since such treatment was working with no other meaningful side effects. Her last work-up studies continue to show complete lung and liver response with stable bone disease. DISCUSSION: Capecitabine is a common drug in the therapy against metastatic breast cancer due to its manageable safety profile. Hand-foot syndrome is a frequent side effect caused by this drug, with dosage adjustment recommended with progression of symptoms. Recent publications have reported adermatoglyphia as a rare side effect of capecitabine use. Upon further examination through dermatoscopy and biopsy, the patient was evidenced to have lost the epidermal ridges that form fingerprints. A score of 9 on the Naranjo scale confirmed to be a consequence of the administration of capecitabine.

Ectodermal dysplasia with congenital adermatoglyphia (Basan syndrome): Report of two cases presenting with extensive congenital milia.

Basan syndrome is a rare autosomal dominant genodermatosis, characterized by rapidly healing congenital acral bullae, congenital milia and adermatoglyphia (lack of finger and toeprints). This type of ectodermal dysplasia has been infrequently reported in the literature. A pathogenic mutation in the SMARCAD1 gene has been demonstrated to cause this rare disorder.

Basan gets a new fingerprint: Mutations in the skin-specific isoform of SMARCAD1 cause ectodermal dysplasia syndromes with adermatoglyphia.

Basan syndrome is an autosomal dominant ectodermal dysplasia (ED) with congenital adermatoglyphia, transient neonatal acral bullae, and congenital facial milia. Autosomal dominant adermatoglyphia (ADG) is characterized as adermatoglyphia with hypohidrosis. Recently mutations in the skin-specific isoform of the gene SMARCAD1 have been found in both syndromes. This report proposes to unify these two previously distinct ED, into one syndrome. We offer a new acronym: SMARCAD syndrome (SMARCAD1-associated congenital facial Milia, Adermatoglyphia, Reduced sweating, Contractures, Acral Bullae, and Dystrophy of nails). Sanger sequencing was performed on genomic DNA from a patient with Basan syndrome using primers designed to flank SMARCAD1. Sanger sequencing revealed a novel variant, NM_001254949.1:c.-10 + 2 T > G, in the donor splice site of exon 1 of the skin-specific isoform. This variant and the other five previously reported variants in Basan syndrome and ADG are all within the same donor splice site. We conclude that Basan syndrome and ADG are on a phenotypic spectrum of a monogenic syndrome which is better described by the acronym SMARCAD syndrome.

Analysis of two candidate genes for Basan syndrome.

Basan syndrome is an extremely rare ectodermal dysplasia with autosomal dominant inheritance and variable expressivity. The etiology of Basan syndrome remains unknown. To identify the Basan syndrome gene, we sequenced keratin 14 (KRT14) and SMARCAD1 in a previously unreported kindred with the disease. Sequencing of the coding regions and splice junctions of KRT14 and SMARCAD1 was performed using PCR-amplified genomic DNA isolated from blood or saliva and standard PCR protocols. In vitro functional studies were performed for a variant identified in SMARCAD1. While direct sequencing of KRT14 failed to reveal any likely pathogenic sequence alterations or splice site variants, a heterozygous splicing variant (c.378+3A>T) that segregated with the disease was identified in the skin-specific isoform of SMARCAD1. In vitro studies failed to demonstrate a splicing defect in SMARCAD1. We screened two candidate genes for Basan syndrome in a 3-generation pedigree. The skin-specific isoform of SMARCAD1 remains a good candidate for this disease.

Dermatopathia Pigmentosa Reticularis with Addisonian Pigmentation: Atypical Presentation of a Rare Case.

Dermatopathia pigmentosa reticularis is a rare ectodermal dysplasia with mottled pigmentation. Here we report a case of 15-year-old boy with variable (reticulate as well as diffuse) pigmentary disorder and adermatoglyphia.

Capecitabine-Associated Loss of Fingerprints: A Case Report of a 62-Year-Old Man With Colorectal Cancer Suffering From Capecitabine-Induced Adermatoglyphia.

BACKGROUND:  Capecitabine is a prodrug of 5-fluorouracil (5-FU) and is converted to 5-FU in tumor tissue. Its primary mechanism of action is the suppression of DNA synthesis via inhibition of thymidylate synthetase. It is mostly used for neoadjuvant chemoradiation, adjuvant chemotherapy for colorectal cancer, metastatic breast, and localized and metastatic gastric cancer, among others. Adverse effects of capecitabine include diarrhea, hand-foot syndrome (HFS), pancytopenia, stomatitis, increased bilirubin, nausea, vomiting, and very rarely adermatoglyphia. Dermatoglyphics refers to fingerprints. Adermatoglyphia refers to the loss of fingerprints. Case review summary: We report the case of a 62-year-old male patient known case of locally advanced colorectal cancer. He presented in the clinic with residual disease after initially being treated with local surgery and chemoradiation with 5-FU. Positron emission tomography (PET) scan done at the time of presentation showed locally advanced disease. He was managed with surgery followed by chemotherapy with oxaliplatin 130 mg/m2 and capecitabine (Xeloda) 1500 mg twice a day for two weeks via three weekly cycles. Post cycle five, the patient complained of grade I HFS symptoms and inability to open a bank account due to loss of fingerprints. The patient was oblivious about this condition before that. After completing his adjuvant treatment that is six cycles of oxaliplatin and Xeloda, his symptoms of the HFS and loss of fingerprints, improved. CONCLUSION: As this case describes, adermatoglypia is a rare but noticeably side effect of capecitabine with a high chance of reversibility. Similar case reports have been reported with some normalization of fingerprints, after stopping treatment. Fingerprints have been used for centuries as means of identification in banks, aviation, immigration, computers, and mobile phones, amongst others. Awareness regarding the loss of fingerprints due to capecitabine is important for the patient and clinician, and alternative means of identification or other adaptive methods of recognition should be used for these patients.

Individuals lacking ridge detail: A case study in adermatoglyphia.

Adermatoglyphia is a very rare autosomal-dominant condition that is genetically inherited and causes an individual to be born without conventional ridge detail on either their palmar or plantar surfaces (the fingers and palms of the hands and the toes and the soles of the feet). While adermatoglyphia has been the focus of medical and genetic research, no previous research has been conducted with regard to the forensic recovery and identification of marks from an adermatoglyphic individual. By observation of ridge detail donated by an adermatoglyphic subject, the study uses different methods in order to capture fingermarks (methods include: inked capture, livescan (biometric) capture, cyanoacrylate fuming, ninhydrin enhancement, and physical developer). Unusually, the purpose of this paper ends up presenting a number of examples of an absence of evidence; unsuccessful attempts made to capture and enhance fingerprint ridge detail. This is determined over a range of standard means including "live" donations by the adermatoglyphic subject onto the Livescan system, and enhancements of latent donations. The subject shows to leave either insubstantial fingermarks with no detail, or no mark whatsoever.

Adermatoglyphia: Barriers to Biometric Identification and the Need for a Standardized Alternative.

Arguably, fingerprinting is the single most widely utilized method for individual identification and authentication (I&A). Dermatoglyphics form a vital portion of mass data collection, biometric scrutiny, and verification. Adermatoglyphia, or simply, loss of fingerprints attributed to a medical cause, represents a taxing situation for such biometric scrutiny systems requiring a fingerprint scan as a mandatory phase in I&A procedure. The scenario can be extremely debilitating for the adermatoglyphia patients, especially when the condition is permanent or irreversible. This article reviews different causes of adermatoglyphia, the challenge it poses to biometric identification, and the potential substitute modalities for fingerprinting technology. These modalities can function as a backup program for biometric surveillance in both medical and non-medical settings under circumstances when the fingerprinting method fails to comply.

Capecitabine-Associated Loss of Fingerprints: Report of Capecitabine-Induced Adermatoglyphia in Two Women with Breast Cancer and Review of Acquired Dermatoglyphic Absence in Oncology Patients Treated with Capecitabine.

Capecitabine, an oral 5-fluorouracil prodrug, is currently used in the treatment of metastatic colorectal carcinoma and breast cancer. Fingerprints, also referred to as dermatoglyphics and characterized by the pattern of ridges and furrows on the fingertips, are used for identification by government agencies and personal electronic devices. Two women with breast cancer who were treated with capecitabine and developed drug-associated loss of their fingerprints are described. PubMed was used to search the following terms separately and in combination: absence, adermatoglyphia, breast, cancer, capecitabine, carcinoma, colon, colorectal, dermatoglyphics, fingerprint, fluorouracil, foot, hand, loss, malignancy, nasopharyngeal, oncology, reaction, rectal, skin, syndrome, tumor, and xeloda. The papers identified were reviewed and appropriate references were evaluated. The characteristics of capecitabine-induced adermatoglyphia in 20 oncology patients are reviewed. Most of the patients received either 2000 mg/m2 or 3500 mg, in divided doses, each day. Hand-foot syndrome, varying in severity from grade 1 to grade 4, always preceded the onset of fingerprint loss. The discovery of adermatoglyphia occurred as early as two weeks to as late as 3½ years after starting capecitabine. Patients were often unaware of their fingerprint loss until they experienced delays attempting to enter the United States, were unable to process government documents or obtain a driver's license, or could not obtain access to their telephone, computer or gym which required fingerprint identification scanning. The loss of fingerprints was reversible for some of the individuals; however, several of the patients did not recover their dermatoglyphics, the functional quality of their fingerprints, or both after discontinuing the drug. The significance of capecitabine-induced adermatoglyphia will continue to increase as fingerprint identification continues to advance not only in scanning technology but also in global utilization. Therefore, it is essential that patients receiving capecitabine are aware of this potential adverse cutaneous sequellae.

Acropigmentation of Kitamura with immigration delay disease: A rare entity.

Reticulate acropigmentation of Kitamura (RAK) is a rare, autosomal dominant disorder first described in Japan characterised by a reticulate pattern of slightly atrophic, angulated, hyperpigmented macules affecting the acral areas of the body. We hereby report a case of RAK in a young Indian male with adermatoglyphia that has not been previously reported in the literature.

A case of dyschromatosis universalis hereditaria with adermatoglyphia: A rare association.

Dyschromatosis universalis hereditaria (DUH) is a rare, autosomal dominant genodermatosis with a peculiar reticulate pigmentary change, consisting of hyperpigmented macules mingled with hypopigmented lesions to give an overall impression of mottling. We herein report a case of DUH with adermatoglyphia in a young male with family history of the disorder.

Síndrome de Kindler: comunicación de casos / Kindler syndrome: a report of a case

El síndrome de Kindler es un cuadro autosómico recesivo, caracterizado por fotosensibilidad, envejecimiento prematuro, poiquilodermia y propensión al desarrollo de cáncer de piel. Se presenta una paciente de 16 años, procedente del sur de Honduras, hija de padres no consanguíneos, sin antecedentes familiares relevantes y con historia de dermatosis diseminada que afecta la cabeza, el tronco y las extremidades superiores e inferiores. Esta se caracterizaba por la presencia de placas atróficas con telangiectasias, que se exacerbaban ante la exposición al sol, con formación de ampollas, especialmente en el dorso de las manos, y por cicatrices atróficas similares al papel de cigarrillo.

Kindler syndrome is an autosomal recessive syndrome characterized by photosensitivity, premature aging, poikiloderma and propensity to develop skin cancer.A sixteen years old patient from southern Honduras, daughter of non consanguineous parents with no family history, is presented. In her first year she developed a dermatosis disseminated to the head, trunk and upper and lower extremities, characterized by atrophic plaques with telangiectasias exacerbated up to blistering when exposed to the sun, especially on the back of hands, with atrophic scars similar to paper cigarette.