The Voice of the Lost Toe: Pseudo-Ainhum Beyond Skin.

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.

"African" acral keratoderma: Further evidence for a single entity. A retrospective study of 42 patients.

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.

[Clinical Characteristics and Gene Mutations in 186 Cases of Kindler Syndrome].

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(r=0.234,P=0.023),palmoplantar keratoderma(r=0.325,P=0.001),webbing/pseudoainhum(r=0.247,P=0.016),dysphagia(r=0.333,P=0.001),urethral stricture(r=0.280,P=0.006)were significantly correlated with age,showing significantly higher incidence in the patients over 32 years old.Urethral stricture(χ2=11.292,P=0.001)and anal stenosis(χ2=4.014,P=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).

Clinical Characteristics and Gene Mutations in 186 Cases of Kindler Syndrome / 中国医学科学院学报

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(r=0.234,P=0.023),palmoplantar keratoderma(r=0.325,P=0.001),webbing/pseudoainhum(r=0.247,P=0.016),dysphagia(r=0.333,P=0.001),urethral stricture(r=0.280,P=0.006)were significantly correlated with age,showing significantly higher incidence in the patients over 32 years old.Urethral stricture(χ2=11.292,P=0.001)and anal stenosis(χ2=4.014,P=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).

Ainhum, a rare mutilating dermatological disease in a female Cameroonian: a case report.

BACKGROUND: Ainhum is an idiopathic dermatological disease characterized by a progressive constricting ring usually on the fifth toe, which may lead to spontaneous auto-amputation of the affected toe. Timely diagnosis and treatment are the key elements to avert amputations with resultant mutilating deformities, permanent handicaps and psychological sequelae. Though common in African descents, this pathology has not been described in the Cameroonian literature. Herein, we report the case of an adult Cameroonian woman presenting with ainhum. CASE PRESENTATION: A 54-year old Cameroonian was admitted to our primary healthcare centre with a 6-month history of a painful constriction band developing at the base of her right fifth toe. Her past history was uneventful. Based on the absence of trauma and spontaneous onset of the condition, the diagnosis of ainhum was most suggestive. She was managed surgically by excision of the band, disarticulated at right fifth metatarsophalangeal joint and skin closure. Her post-operative course after 1 year was uneventful. CONCLUSION: Here we presented a case of ainhum, a rare dermatological disease with few reports. In view of the serious complications of ainhum such as mutilating deformities with permanent physical disabilities and psychological trauma, we draw clinicians' attention, especially wound care specialists to this rare but potentially handicapping disease, for timely diagnosis and management.

A novel association of pseudoainhum and epidermolytic ichthyosis, successfully treated with full thickness skin graft after failed z-plasty repair.

Pseudoainhum is a rare constriction band variant thatmay progress to spontaneous digital strangulationand auto-amputation. Although its association withpalmoplantar keratodermas is well established, ithas not been reported in conjunction with classicepidermolytic ichthyosis. We describe the first suchcase in a 25-year-old woman who presented witha painful constricting band of the fifth toe. We alsodescribe her treatment course, which consisted ofa failed z-plasty, the traditional therapeutic optionfor acute pseudoainhum, and report the success ofsubsequent full thickness skin graft, suggesting thebenefit of this procedure as a therapeutic alternativefor patients with pseudoainhum.

Utility of ultrasonography in hair-thread tourniquet syndrome.

A 2-year-old girl presented with a 2-month history of an erythematous, indurated plaque with well-defined borders on the third toe of the right foot. Bedside high-resolution ultrasonography demonstrated a thickened epidermis overlying a hyperechoic focus within the dermis. Her clinical and sonographic presentation was in keeping with a foreign body causing hair-thread tourniquet syndrome. The foreign body was surgically extirpated without neurovascular sequelae. Ultrasonography expedited accurate diagnosis and is a promising adjunct to clinical evaluation for radiolucent foreign bodies.