Naegeli–Franceschetti–Jadassohn Syndrome: A Rare Case of Entwine Hue of Pigmentary World

Madam, A 9-year-old school-going female child, born out of second-degree consanguineous marriage, presented with complaints of reticulate hyperpigmentation predominantly over the neck, axilla, groins, and flexural aspects of extremities including palms and soles, associated with sparse and thin hairs, photophobia, watering from eyes, hypohidrosis, and heat intolerance since birth. There was no history of similar complaints in the family. She had normal physical and mental development. On dermatological examination, a net-like pattern of dark brown or gray skin coloring involving the neck, axilla, groins Figure 1, and flexural aspects of extremities including palms and soles was present Figure 2. Generalized xerosis was noted. Hair examination showed sparse, thin hair with mild pigmentary dilution, and patchy brown discoloration. Diffuse reticulate pigmentation was presented over the tongue. Conjunctival pigmentation was also present. Teeth showed yellowish discoloration, abnormal dentition, and enamel defects Figure 3. The absence of dermatoglyphics was noted Figure 2. Nails and joint examination were normal. General and systemic examination was normal. Routine blood investigations were within the normal limits. Histopathological examination was suggestive of epidermal atrophy, vacuolar degeneration, and marked pigmentary incontinence with the presence of melanophages on the superficial upper dermis Figure 4. Based on clinical and histopathological findings, a diagnosis of Naegeli–Franceschetti–Jadassohn syndrome (NFJS) was made.Figure 1: Net-like pattern of dark brown or gray skin coloring involving neck (a and b), back (c), and groins (d)Figure 2: Reticulate pigmentation over palms (a) and soles (b). Absence of dermatoglyphics (c) (right side) as compared with normal individual (left side)Figure 3: Teeth showed yellowish discoloration, abnormal dentition, and enamel defects (a), diffuse reticulate pigmentation over tongue (b), conjunctival pigmentation (c)Figure 4: Epidermal atrophy, vacuolar degeneration, and marked pigmentary incontinence with the presence of melanophages on the superficial upper dermisNFJS was first described by Naegeli in 1927, and in 1954, Franceschetti and Jadassohn re-examined the original family and noted the autosomal dominant pattern of inheritance. The incidence is estimated to be one case in 2–4 million population.1 Several mutations in the KRT 14 gene have been found to cause NFJS/dermatopathia pigmentosa reticularis (DPR). NFJS and DPR were initially described as separate conditions; however, because of similarities in the clinical presentation and being caused by mutations in the same gene, they are now often considered different forms of the same disorder. Reticulate hyperpigmentation starts around the age of 2 years without a preceding inflammatory stage. The pigmentation shows a gradual increase during the first 10 years of life, and fading starts around the age of 15 years. Patients with NFJS who are older than 70 years only have minimal or no pigmentation left.2 Additional features of NFJS/DPR can include hypohidrosis or hyperhidrosis, heat intolerance, cicatricial and noncicatricial alopecia, and enamel defect. Hypohidrosis is the most debilitating aspect of the NFJS as it can lead to collapse after exercise.3 Nail changes may show onychodystrophy, onycholysis, subungual hyperkeratosis, and congenital malalignment of the great toenails.4 Abnormalities of dermatoglyphics are divided into four main categories: ridge aplasia, ridge hypoplasia, ridge dissociation, and ridge off the end. Ridge dissociation and hypoplasia are the abnormalities that can be seen in NFJS as well as in DPR.5 Other differential diagnosis of reticulate pigmentary diseases includes DPR, Dowling–Degos disease, reticulate acropigmentation of Kitamura, and dyskeratosis congenita. No specific treatment is available for NFJS, except for symptomatic management. In our patient, we observe all the clinical features of the NFJS, with some additional findings such as conjunctival pigmentation and watering of eyes, which has not been reported previously as per the best of our knowledge. Declaration of consent The authors certify that they have obtained all appropriate consent forms, duly signed by the parent(s)/guardian(s) of the patient. In the form, the parent(s)/guardian(s) has/have given his/her/their consent for the images and other clinical information of their child to be reported in the journal. The parents understand that the names and initials of their child/children will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed. Financial support and sponsorship Nil. Conflicts of interest There are no conflicts of interest.