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SAGE Open Medical Case Reports 2023Hereditary palmoplantar keratoderma is a rare heterogenous group of genodermatoses characterised by hyperkeratosis of the palms and soles. Genetic alterations affecting...
Hereditary palmoplantar keratoderma is a rare heterogenous group of genodermatoses characterised by hyperkeratosis of the palms and soles. Genetic alterations affecting proteins of the keratin cytoskeleton, cornified cell envelope, desmosomes and gap junction proteins have been implicated in the pathogenesis of inherited palmoplantar keratoderma. Reports of palmoplantar keratoderma in the African population are scarce. Herein, we report a case of a 29-year-old HIV-infected African female, who presented to a tertiary hospital with complaints of a painful left fourth toe, secondary to a constriction band. Her background history is significant for prior constriction bands involving her toes, some of which progressed to auto-amputations and childhood-onset thickening of the palmoplantar skin. Examination revealed diffuse transgrediens palmoplantar keratoderma with associated clinical findings of pseudo-ainhum and knuckle pads. A systemic workup was non-contributory. Next-generation sequencing genetic testing detected two variants of undetermined significance in gap junction protein beta 4, a connexin-encoding gene, and in the rhomboid 5 homolog 2 gene. Her phenotype remains discordant with our genetic findings. Her clinical features are instead consistent with overlapping phenotypes of gap junction protein beta 2-related connexin disorders: Vohwinkel syndrome and Bart-Pumphrey syndrome. Our case underlines the genetic heterogeneity of palmoplantar keratoderma and the diagnostic challenges it presents. Our patient required surgical amputation of the affected toe and is receiving ongoing dermatological management. Early recognition, appropriate referral and management are required to avert the debilitating consequences of mutilating keratoderma and improve the quality of life.
PubMed: 37846342
DOI: 10.1177/2050313X231204197 -
Skinmed 2023An 11-year-old boy presented with serial autoamputations of the right 4th and 5th toes during the past 6 years. This was associated with sensory loss on the right leg...
An 11-year-old boy presented with serial autoamputations of the right 4th and 5th toes during the past 6 years. This was associated with sensory loss on the right leg and development of constriction bands around the right 2nd and 3rd digits for the past 5 months. For a year, the patient had been treated with paucibacillary, multi-drug therapy (PB-MDT) with a presumptive diagnosis of leprosy. He was born from a nonconsanguinous marriage and the birth was uneventful. The developmental milestones were normal, and no family history of any congenital anomalies was reported.
Topics: Male; Humans; Child; Ainhum; Skin; Lower Extremity; Toes
PubMed: 37634110
DOI: No ID Found -
The Pan African Medical Journal 2023
Topics: Humans; Ainhum
PubMed: 37275299
DOI: 10.11604/pamj.2023.44.129.39066 -
Annales de Dermatologie Et de... Mar 2023Several phenotypes of non-inflammatory palmar and plantar keratoderma (PPK) have been described in patients of Sub-Saharan African descent. They include keratosis...
BACKGROUND
Several phenotypes of non-inflammatory palmar and plantar keratoderma (PPK) have been described in patients of Sub-Saharan African descent. They include keratosis punctata of the palmar creases, marginal keratoderma, also known as acrokeratoelastoidosis or focal acral hyperkeratosis, knuckle pads, other forms of diffuse hyperkeratosis, the very rare "mosaic acral keratosis", and ainhum. A previous survey has shown that these various forms of PPK are particularly frequent in patients of Sub-Saharan African descent and that they commonly occur concurrently, suggesting that they could form part of a single entity called "African" Acral Keratoderma (AAK).
AIM
To assess the validity of the concept of AAK and clarify its main characteristics.
METHODS
A retrospective, descriptive, monocenter study was carried out on patients with AAK seen at our institution between 2009 and 2020.
RESULTS
There were 42 patients (median age 38 years, range: 12-69 years), all of Sub-Saharan African descent. The male-female sex ratio was 0.3. Thirty-three (78%) had diffuse keratoderma, 25 (59%) had marginal keratoderma on their hands and/or feet, 20 (48%) had knuckle pads, 20 (48%) had keratosis punctata of the palmar creases, 3 had ainhum, and 2 had mosaic acral keratoderma. Mixed forms were seen in 76% of the patients (n = 32). Familial histories were reported by 17 patients (40%). Treatment was topical in over 90% of patients and systemic in 9 patients (21%). Ainhum was managed surgically.
CONCLUSION
This retrospective study provides additional evidence for the concept of AAK. A genetic origin is suggested by the familial aggregation of cases.
Topics: Humans; Male; Female; Retrospective Studies; Ainhum; Keratoderma, Palmoplantar; Black People; Hand
PubMed: 36424301
DOI: 10.1016/j.annder.2022.08.004 -
Zhongguo Yi Xue Ke Xue Yuan Xue Bao.... Apr 2022Objective To investigate the clinical characteristics and genetic mutations in Kindler syndrome(KS)and provide a theoretical basis for the diagnosis and treatment of KS....
Objective To investigate the clinical characteristics and genetic mutations in Kindler syndrome(KS)and provide a theoretical basis for the diagnosis and treatment of KS. Methods The clinical data of one case of KS from Peking Union Medical College Hospital and 185 cases reported in literature were collected. The gene mutation types,patient clinical data,and tumor characteristics were statistically analyzed. Results A total of 186 cases were enrolled,including 110 males and 76 females,with the mean age of(28±16)years. The data of gene mutation and specific clinical manifestations were available in 151 and 94 patients,respectively. The main clinical manifestations of KS included poikiloderma,occurrence of blister in childhood,and photosensitivity,and the secondary clinical manifestations included oral inflammation,palmoplantar keratoderma,webbing/pseudoainhum,dysphagia,urethral stricture and so on.Oral inflammation(=0.234,=0.023),palmoplantar keratoderma(=0.325,=0.001),webbing/pseudoainhum(=0.247,=0.016),dysphagia(=0.333,=0.001),urethral stricture(=0.280,=0.006)were significantly correlated with age,showing significantly higher incidence in the patients over 32 years old.Urethral stricture(=11.292,=0.001)and anal stenosis(=4.014,=0.045)were significantly correlated with sex,with higher incidence in males.Eighty different mutations were found in 151 patients,and the most common gene mutation was c.676C>T.Forty-one tumors occurred in 27 patients,among which squamous cell carcinoma accounted for 92.7%. The gene mutation site had no significant correlation with squamous cell carcinoma or patient country. Conclusions The c.676C>T in FERMT1 gene is the most common mutation in KS.The patients are prone to squamous cell carcinoma and mainly attacked at the exposure sites(hand and mouth).
Topics: Adolescent; Adult; Ainhum; Blister; Carcinoma, Squamous Cell; Child; Constriction, Pathologic; Deglutition Disorders; Epidermolysis Bullosa; Female; Humans; Inflammation; Keratoderma, Palmoplantar; Male; Membrane Proteins; Mutation; Neoplasm Proteins; Periodontal Diseases; Photosensitivity Disorders; Urethral Stricture; Young Adult
PubMed: 35538757
DOI: 10.3881/j.issn.1000-503X.14761 -
Skinmed 2021
Topics: Ainhum; Constriction, Pathologic; Humans; Keratoderma, Palmoplantar
PubMed: 34861921
DOI: No ID Found -
The Australasian Journal of Dermatology Aug 2021
Topics: Adolescent; Ainhum; Constriction, Pathologic; Excitatory Amino Acid Antagonists; Female; Gabapentin; Humans; Keratoderma, Palmoplantar
PubMed: 33984155
DOI: 10.1111/ajd.13625 -
Orthopedic Reviews Dec 2020Vohwinkel Syndrome, also known as Keratoderma Hereditarium Mutilans, is an extremely rare dominant autosomal keratosis. It typically presents with "starfish" keratoses...
Vohwinkel Syndrome, also known as Keratoderma Hereditarium Mutilans, is an extremely rare dominant autosomal keratosis. It typically presents with "starfish" keratoses on the knuckles, palmoplantar keratoderma (PPK), hearing impairment and mutilating digital constriction bands (pseudoainhum) that cause strangulation, often leading to autoamputation of the affected digit. Both medical and surgical treatment haven't shown to date consistent results, in the treatment of pseudoainhum. In this study we present the case of a woman with Vohwinkel syndrome who showed constriction bands causing ischemic changes of the 5th digit of the right hand for which she was treated with surgery. We also present a review of the literature for the management of this disease.
PubMed: 33633820
DOI: 10.4081/or.2020.8868 -
Postgraduate Medical Journal May 2022
Topics: Ainhum; Humans
PubMed: 33589488
DOI: 10.1136/postgradmedj-2020-139674